Clinical rare diseases. Medical search. Frequent questions

The FDA awarded the grants through the Orphan Products Clinical Trials Grants Program , funded by Congressional appropriations, to encourage clinical development of drugs, biologics, medical devices, or medical foods for use in rare diseases. (fda.gov)
The clinical trials grant program is an important part of the FDA's ongoing commitment to encouraging and supporting the development of safe and effective therapies for rare diseases," said Rachel Sherman, M.D., M.P.H, FDA's principal deputy commissioner. (fda.gov)
He will also present clinical data from two Phase 3 trials of ISTURISA ® (osilodrostat). (businesswire.com)
TORONTO, Ontario , Feb. 10, 2021 /PRNewswire-PRWeb/ -- Investigative sites are fundamental to the success of clinical trials. (prweb.com)
In many rare disease trials, recruitment relies heavily on their existing patient population. (prweb.com)
A lack of high quality natural history data, based on a uniform, quantitative evaluation of patients continues to hinder the efforts to perform clinical trials for most forms of CMT. (rarediseasesnetwork.org)
This study aims to determine the natural history of CMT1B, CMT2A, CMT4A, CMT4C, and other types of CMT in order to refine the overall picture of disease for use in future clinical trials. (rarediseasesnetwork.org)
The conduct of long-term conventional randomized clinical trials in rare diseases is very difficult, making evidenced-based drug development problematic. (nih.gov)
In this investigation, inclusion and exclusion criteria from a published trial of maralixibat in Alagille syndrome (ALGS, ITCH NCT02057692 ) were applied to a prospective longitudinal cohort of children with cholestasis (LOGIC NCT00571272 ) to derive contextual comparator data for evolving clinical trials of intestinal bile acid transport inhibitors in ALGS. (nih.gov)
These investigations provide valuable real-world data that can serve as contextual comparators to current clinical trials, especially those without control populations, and highlight the value and importance of funded multicenter, prospective, natural history studies. (nih.gov)
Last week, at the Clinical Trials in Rare Diseases 2023 conference in Princeton, New Jersey, patient advocates, clinical investigators and biotech representatives gathered to discuss factors influencing clinical research in rare diseases. (pharmaceutical-technology.com)
Often, marginalised groups do not participate in clinical trials not only because of mistrust due to historical events like the Henrietta Lacks case , but also because they are not asked, said Jenifer Ngo Waldrop, executive director of the nonprofit Rare Disease Diversity Coalition. (pharmaceutical-technology.com)
Social media is another popular way for patients to find clinical trials, and vice versa. (pharmaceutical-technology.com)
Joanna Reeder, Vice President of Project Management in the General Medicine Franchise for Worldwide Clinical Trials, has more than 30 years' experience in directing global projects in many therapeutic areas across all phases of clinical trials. (worldwide.com)
Rare disease trials are increasingly more complex. (worldwide.com)
Worldwide navigates these immense logistical challenges using smart operations planning, our vetted global network, and our experienced team to ensure that even the most complex rare disease trials run smoothly toward a new drug application. (worldwide.com)
See what Worldwide Clinical Trials can do for you. (worldwide.com)
Sponsors working on developing drugs for rare diseases should increase their efforts to obtain natural history data, which can improve the rigor of their drug development programs and help support clinical trials. (centerwatch.com)
Brad Sippy, founder and CEO of Tremeau Pharmaceuticals, a Concord, Mass.-based pharma company developing nonopioid pain treatments, has witnessed the complex nature of rare disease trials firsthand in the development of the company's hemophilic arthropathy drug candidate, TRM-201 (rofecoxib), which is now in phase 3. (centerwatch.com)
This is a unique condition [we're studying] … and applying a one-size-fits-all kind of clinical design that may be used for a larger osteoarthritis trial, for example, doesn't quite work in a space like this," Sippy said at a recent WCG webinar on studying pain in rare disease trials. (centerwatch.com)
Quantification of change in the total bone volume by whole body CT scanning could be a reliable evaluation tool for disease progression in forthcoming clinical trials of FOP. (biomedcentral.com)
Though the design of a Rare Disease clinical trial has its own challenges, the sample size is usually much smaller when compared to other clinical trials. (eclipsesol.com)
For insight into how leaders are navigating these and other obstacles, join us on Wednesday as we sit down with some of the industry's leading rare disease experts to talk clinical trials, regulations and more. (pharmavoice.com)
Panel discussion topics include success factors for rare cancer research, collective research models with the NIH Rare Diseases Clinical Research Network, quality patient registries to understand rare diseases and gene editing/genome therapy clinical trials. (nih.gov)
Approximately 400 clinical trials in a rare disease condition are currently registered on ClinicalTrials.gov - on Rare Disease Day 2017, Outsourcing-Pharma.com examines the numbers. (outsourcing-pharma.com)
From basic research through drug discovery, preclinical work in animals, clinical trials in humans, and then regulatory approval, therapeutic development is an often complicated, controlled process said Lara Longpre, Chief Development Officer at Mirum Pharmaceuticals during a presentation at the 2023 PFIC Family & Scientific Conference. (medjournal360.com)
There are 3 main phases in clinical trials for humans. (medjournal360.com)
As for the timeline of clinical trials, it can take about 10 to 15 years. (medjournal360.com)
Oncology clinical trials are widely recognised as being amongst the most complex trials to design, set up, and deliver. (journalforclinicalstudies.com)
The demand to find treatment responses for various cancer indications is high, the research is intensive, and the number of sophisticated clinical trials is great. (journalforclinicalstudies.com)
Journal For Clinical Studies has a distinguished editorial advisory board providing the best guidelines for global clinical trials. (journalforclinicalstudies.com)
The laboratory of Methodology for Clinical Research promotes and coordinates clinical trials , especially in oncology, in collaboration with national and international research groups, by combining the mission and the identity of a nonprofit research institution with high quality standards. (marionegri.it)
Two clinical trials are ongoing to evaluate the efficacy of Hyperthermic IntraPeritoneal Chemotherapy (HIPEC), with the aim to control relapses in patients with gastrointestinal tract tumor, such as colon carcinoma and stomach carcinoma. (marionegri.it)
clinical trials conducted outside the EU / EEA that are linked to European paediatric-medicine development. (guard.org.au)
Hong Kong - Novotech, a leading biotech specialist CRO in the Asia-Pacific region this month showcases its rare diseases expertise in a new ARENA webinar titled Understanding Asia's Success as a Rare Diseases Clinical Trial Location, and a keynote presentation at the Clinical Trials in Rare Diseases Conference 2021 (September 14, virtual). (novotech-cro.com)
The Understanding Asia's Success as a Rare Diseases Clinical Trial Location webinar is available to view here: https://novotech-cro.com/webinars/accelerating-clinical-trials-rare-disease-understanding-asias-success-rare-disease. (novotech-cro.com)
For most of these indications, clinical studies involving sites from Asia-Pacific outperformed the median patient enrollment duration of rare disease trials globally. (novotech-cro.com)
Asian countries have been implementing legal frameworks similar to the Orphan Drug Act used in the US, encouraging clinical trials in many locations including South Korea, Taiwan, Singapore and the Philippines. (novotech-cro.com)
Furthermore, the Action Plan on Rare Diseases launched by the Asia-Pacific Economic Cooperation is expected to accelerate supportive actions to develop public actions, disease registries, and patient access to clinical trials, and to reduce enrollment durations. (novotech-cro.com)
This includes expertise in site selection and access to patient registries to accelerate patient enrolment, and global regulatory knowledge regarding the specific context of rare disease trials and orphan diseases trials. (novotech-cro.com)
Clinical research is difficult in even the most common areas, but the complexity of rare disease trials can make it feel insurmountable. (advancedclinical.com)
Why is conducting clinical trials for rare diseases difficult? (alexion.com)
This is why Alexion continues to lead the way in helping to address the unique challenges of designing, recruiting, and conducting clinical trials for rare diseases. (alexion.com)
In addition to designing research frameworks and systems to inform rigorous clinical trials, we're also conducting research aimed at shortening the diagnostic odyssey, which can take as long as five years for many rare diseases. (alexion.com)
This helps to ensure that our clinical trials are designed to represent patients' unique needs, demonstrate the impact of what is often a first-of-its-kind medicine, and comply with global regulatory requirements. (alexion.com)
Consequently, clinical trials for orphan drugs are often smaller than those of non-orphan drugs, and they require the development of efficient trial designs relevant to small populations to gain the most information from the available data. (biomedcentral.com)
IRDiRC set up a Small Population Clinical Trials (SPCT) Task Force in order to address the shortcomings of our understanding in carrying out clinical trials in rare diseases. (biomedcentral.com)
Recommendations have been issued based on discussions of the Small Population Clinical Trials Task Force that aim to contribute towards successful therapy development and clinical use. (biomedcentral.com)
While randomised clinical trials are still considered the gold standard, it is recommended to systematically take into consideration alternative trial design options when studying treatments for a rare disease. (biomedcentral.com)
Multi-arm trials should be considered an opportunity for rare diseases therapy development, and funders are encouraged to support such trial design via international networks. (biomedcentral.com)
Patient engagement is critical in trial design and therapy development, a process which sponsors are encouraged to incorporate when conducting trials and clinical studies. (biomedcentral.com)
The development and evaluation of drugs, biologics and devices, intended for the treatment of rare diseases, is often accomplished in small clinical trials. (biomedcentral.com)
Consequently, trials set up in these low prevalence conditions face many challenges, including heterogeneity in the patient population, difficulty in clinical trial recruitment, poorly understood natural history of the disease and often presentation in children, which brings additional challenges in clinical trials and trial design. (biomedcentral.com)
Today, the U.S. Food and Drug Administration announced it has awarded 19 new grants and two new contracts totaling more than $38 million in funding over the next four years to support clinical trials, natural history studies and regulatory science tools related to rare diseases. (fda.gov)
The FDA received 33 clinical trial grant applications and awarded more than $25 million spread over the next four years to 11 clinical trials that support product development for rare disease treatments. (fda.gov)
Visit Orphan Products Grants (clinical trials) for more information. (fda.gov)
This can ultimately lead to lower clinical trial costs and enable decentralized trials, where appropriate, improving access to trials for patients in rural areas and lower-resource healthcare settings. (fda.gov)
This section helps you and your family understand clinical trials and gives you some things to consider when deciding whether a clinical trial is a good option for you. (aamds.org)
Doctors and other health professionals run the clinical trials, which are conducted in phases. (aamds.org)
An IRB is an independent committee that consists of physicians, statisticians and members of the community who ensure that clinical trials are ethical and that the rights of participants are protected. (aamds.org)
Why are clinical trials important for rare diseases? (aamds.org)
How do you recruit people with rare diseases for clinical trials? (medlineplus.gov)
If somebody's looking for a clinical trial, all clinical trials have to be registered at clinicaltrials.gov . (medlineplus.gov)
Despite the high collective occurrence of rare cancers, basic science research, clinical trials, and approval of new therapies for these rare diseases are lacking. (who.int)
This makes recruitment for clinical trials extremely challenging and stalls efforts to test emerging therapeutics. (who.int)

On average, it takes seven years to get a diagnosis in the rare disease community, he added. (pharmaceutical-technology.com)
A recent paper in the New England Journal of Medicine , " 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report ," doesn't appear at first glance to be a possible game changer. (jax.org)
Also featured will be personal video stories by rare disease patients, video messages from global rare disease leaders and a special rare disease portrait unveiling by Beyond the Diagnosis of an NIH Clinical Center patient. (nih.gov)
This algorithm shows its ability to improving the diagnosis rate of patients with rare diseases of genetic origin . (nationworldnews.com)
The diagnosis of rare diseases is a constant challenge in the medical field, and although whole exome sequencing (WES) and whole genome sequencing (WGS) are very valuable methods, it remains necessary to identify faster methods. (nationworldnews.com)
His electrophysiological studies, and clinical picture, and magnetic resonance imaging findings were consistent with a diagnosis of Hirayama's disease. (ac.ir)
The primary objective of this registry is to acquire and store ongoing clinical data of individuals with a clinical or molecular diagnosis of CSS and/or BAF pathway mutations. (chkd.org)
The rare disease registry is a retrospective and prospective study monitoring individuals with a molecular and clinical diagnosis of Pompe, Fabry, Gaucher, and MPS1. (chkd.org)
The fellowship offers FTE 0.5 of clinical training to better understand the process of diagnosis and management of patients with rare disorders through clinical rotations, including a laboratory component. (sickkids.ca)
Upon completion of the fellowship, graduates will have developed a greater understanding of clinical and biochemical genetics and the tools available for the diagnosis and management of rare disorders. (sickkids.ca)
Lectures, seminars and courses are offered through the Division of Clinical and Metabolic Genetics, the Division of Genome Diagnosis, the Research Institute and other areas of interest to the applicant. (sickkids.ca)
Ultrasonography has not been proven useful for the diagnosis of LAM or of any other interstitial lung disease. (medscape.com)
Healthcare providers are encouraged to report suspected Zika virus disease cases to their state health department to facilitate diagnosis and to mitigate the risk of local transmission. (cdc.gov)
This CDC Health Advisory includes information and recommendations about Zika virus clinical disease, diagnosis, and prevention, and provides travel guidance for pregnant women and women who are trying to become pregnant. (cdc.gov)
Safe, effective, quality-assured and affordable vaccines, medicines, medical devices, in vitro diagnostics and assistive products are necessary for the prevention, diagnosis and treatment of cancer and other noncommunicable diseases such as diabetes, and rare and orphan diseases, as well as the monitoring, rehabilitation and palliative care of individuals with these conditions. (who.int)

With two rare disease products on the launch pad for FDA submission in 2023 and a growing pipeline, Rocket is fueled for its next era of growth. (pharmavoice.com)

Clinical Research in Amyotrophic Lateral Sclerosis and Related Disorders for Therapeutic Development (CReATe), Michael Benatar, M.D., Ph.D., University of Miami Miller School of Medicine, Miami, FL. (wikipedia.org)
Amyotrophic lateral sclerosis (ALS), also referred to as Lou Gehrig's Disease, is a progressive motor neuron disease that leads to problems with muscle control and movement. (rarediseasesnetwork.org)
The Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium conducts research in the sporadic and familial forms of amyotrophic lateral sclerosis, frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and progressive muscular atrophy (PMA). (rarediseasesnetwork.org)
The purpose of the Clinical Procedures to Support Research in ALS (CAPTURE-ALS) study is to utilize information collected in the medical record to learn more about a disease called amyotrophic lateral sclerosis (ALS) and related disorders. (rarediseasesnetwork.org)
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). (rarediseasesnetwork.org)
Hirayama's disease is a rare clinical variant of amyotrophic lateral sclerosis where distal muscles are involved more compared to proximal muscles and vice-versa occurs only in 10% cases and so it is differentiated from O'Sullivan McLeod syndrome which involves only small muscles of single limb. (ac.ir)
Hirayama's Disease: A Rare Clinical Variant of Amyotrophic Lateral Sclerosis', Advanced Biomedical Research , 2017(july), pp. 1-3. (ac.ir)
Several awards support the Accelerating Access to Critical Therapies for Amyotrophic Lateral Sclerosis Act (ACT for ALS) which recently established the FDA Rare Neurodegenerative Disease Grant Program to promote medical product development for rare neurodegenerative diseases such as ALS. (fda.gov)

Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation. (wikipedia.org)
RareUniversity.com will launch in conjunction with the Fifth Annual RARE Patient Advocacy Summit, September 22-23, 2016. (prnewswire.com)
BOSTON and ALISO VIEJO, Calif. , Aug. 18, 2016 /PRNewswire-USNewswire/ -- Global Genes , a leading global advocacy organization for patients and families fighting rare and genetic diseases, and PlatformQ Health are proud to announce the strategic partnership to develop a first of it's kind educational platform, RareUniversity. (prnewswire.com)
The goal of this new program is to equip advocates and clinicians with comprehensive tools to help navigate the complex world of rare disease education and advocacy. (prnewswire.com)
Together with Global Genes and the organizations they serve, RareUniversity will provide a trusted educational platform to measurably improve the state of rare disease education and advocacy. (prnewswire.com)
Global Genes is a leading global advocacy organization for patients and families fighting rare and genetic diseases. (prnewswire.com)
We have decades of experience working with patients, families, advocacy groups, and key opinion leaders in rare conditions to help recruit and retain our most vulnerable patient populations. (worldwide.com)
Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. (medlineplus.gov)
Natural history data is often missing from rare disease drug development because it hasn't been gathered," advised Steve Smith, president of patient advocacy at WCG. (centerwatch.com)
Advocacy groups are often formed by patients with rare diseases as way of providing encouragement and sharing knowledge that supports research and also helps others patients with similar needs. (eclipsesol.com)
Guided by her personal experiences, Tamar Thompson is aiming to improve rare disease care through her advocacy work at Alexion, AstraZeneca Rare Disease. (pharmavoice.com)
In addition, many rare disease advocacy organizations are, by nature, small-both in numbers and in resources. (pcori.org)

Two studies recruit patients with unmet need in sickle cell disease. (fda.gov)
Included in the report were numerous approvals for treatments targeted at combatting rare diseases like cystic fibrosis, tenosynovial giant cell tumor, and sickle cell disease. (ajmc.com)
Adakveo (crizanlizumab-tmca) injections for sickle cell disease were also approved. (ajmc.com)
As someone who has been personally affected by rare disease and now also works to improve systems of care for those living with sickle cell disease, I am intimately aware of the need for urgent action and increased national momentum (I elaborate more fully on this in a recent article from the National Institute for Children's Health Quality). (pcori.org)

Unfortunately in 2020, there is no established rare disease research infrastructure across NI (UK) or RoI. (qub.ac.uk)
This RarE Disease Research Engaging Social Science (REDRESS) Partnership (tagged as #REDRESS_Rare), was developed in response to a network funding call from the ESRC - IRC in 2020. (qub.ac.uk)
At the March 2020 meeting , PCORI's Board of Governors will consider a funding opportunity to use PCORnet to conduct research on rare diseases. (pcori.org)

Centers for Disease Control and Prevention. (cdc.gov)
This kind of research requires necessarily the contribution of different clinical centers coordinated by nonprofit institutions. (marionegri.it)
The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
Announcer] This program is presented by the Centers for Disease Control and Prevention. (cdc.gov)
09/24/1993 SUGGESTED CITATION Centers for Disease Control and Prevention. (cdc.gov)
Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)

There are nearly 7,000 rare diseases. (medlineplus.gov)
There are over 7,000 known rare diseases that affect approximately 400 million people worldwide. (pfizer.com)
There are over 7,000 rare diseases that impact the lives of over 30 million people. (medlineplus.gov)

On Feb. 28, 2019, the National Institutes of Health will host Rare Disease Day at NIH and open its doors to public and private researchers, patients and their support organizations, policy makers and other members of the community. (nih.gov)
In 2019, 21 of CDER's 48 novel drug approvals (44%) were approved to treat rare or 'orphan' diseases that affect 200,000 or fewer Americans," the report states. (ajmc.com)
This report presents progress made in implementing resolution WHA70.12 (2017) on cancer prevention and control in the context of an integrated approach, on and access to health products for rare and orphan diseases1 (part A) and in implementing resolution WHA72.8 (2019) on improving the transparency of markets for medicines, vaccines, and other health products (part B). (who.int)

We are honored to be collaborating and continuing to drive value for all of the rare disease stakeholders who need more insights and tools. (prnewswire.com)
The panel discusses their first-hand experiences and insights working on range of rare disease programs from a clinical trial operations perspective. (novotech-cro.com)
Alexion's approach to rare disease clinical research is guided by the insights and perspectives we gain from listening to and learning from the rare disease communities we aim to serve. (alexion.com)
Where there are no well-defined clinical development roadmaps or regulatory pathways to follow, our teams continuously think outside the box to incorporate patient and caregiver insights and real-world evidence into our research programs. (alexion.com)
Introduction: Workplace clusters of rare lung disease can provide insights into disease pathogenesis and may ultimately have implications for treatment and prevention. (cdc.gov)

LEBANON, N.J.--( BUSINESS WIRE )--Recordati Rare Diseases Inc. announced today that various scientific abstracts have been accepted and will be featured onsite at the American Association of Clinical Endocrinology (AACE) annual meeting being held in San Diego, California from May 12 - 14, 2022. (businesswire.com)
And, in the biggest biopharma deal of 2022, Amgen purchased Horizon Therapeutics for $27.8 billion in December to expand its rare disease pipeline. (pharmavoice.com)
Between 2015 and 2022, rare disease drugs accounted for half of all FDA approvals. (pharmavoice.com)

This confirms the continuing need for efficient trial designs relevant to small populations to assure continued development of new treatments for rare diseases, especially when traditional randomised control trial designs are not possible due to limited number of available patients. (biomedcentral.com)

At the same time, there was an understanding that in some situations, especially with ultra-rare disorders where there are less than 200,000 known people with that condition, it can be difficult to enrol diverse populations. (pharmaceutical-technology.com)
A rare disease is one that affects fewer than 200,000 people in the United States. (medlineplus.gov)
In the United States, a Rare Disease is usually defined as a disease or condition that affects less than 200,000 people. (eclipsesol.com)
Different jurisdictions use different criteria for designating "rare" (or "orphan"): for example, fewer than 200,000 people affected by the condition in the US, fewer than 1 in 2000 people in the European Union, and fewer than 50,000 people in Japan [ 1 , 2 , 3 ]. (biomedcentral.com)

The ACT requires that the FDA award grants and contracts to public and private entities to cover costs of research on, and development of interventions intended to prevent, diagnose, mitigate, treat, or cure ALS and other rare neurodegenerative diseases in adults and children. (fda.gov)
Three of the natural history studies awarded by the FDA are related to rare neurodegenerative diseases including for ALS, Myotonic Dystrophy Type 1, and Ataxia-Telangiectasia. (fda.gov)
Additionally, the FDA funded two contracts related to rare neurodegenerative diseases. (fda.gov)

To date, they have encompassed 237 research protocols and included more than 56,000 participants in studies ranging from immune system disorders and rare cancers to heart and lung disorders, brain development diseases and more. (wikipedia.org)
In addition to approvals for rare diseases, CDER announced in its report the approval of treatments for certain cancers, blood disorders, autoimmune conditions, and heart, lung, circulatory, and endocrine diseases. (ajmc.com)
They will be better prepared to consult with health teams and act as a point person within their specialty for the evaluation of patients with rare disorders. (sickkids.ca)
The objective of the research project would be to advance the understanding of the molecular and /or biochemical pathophysiology and genomics of rare disorders. (sickkids.ca)
Dr. Matt Cheung, whom I succeeded as Chair, urged us at our last meeting in the fall to continue to identify cross-cutting research topics that need to be addressed in rare disease-such as sleep disorders and transitions from pediatric to adult care-and to look for ways to tackle the challenges of performing comparative effectiveness research among rare disease populations. (pcori.org)

On November 3, 2003, the NIH established the Rare Diseases Clinical Research Network with a Data Technology Coordinating Center and the first Rare Disease Clinical Research Consortia (RDCRCs). (wikipedia.org)
In its fourth funding cycle, the Rare Diseases Clinical Research Network (RDCRN) consists of 20 Rare Diseases Clinical Research Consortia (RDCRCs) and a Data Management and Coordinating Center (DMCC). (wikipedia.org)
The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. (rarediseasesnetwork.org)
You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway. (rarediseasesnetwork.org)
She has expertise in rare diseases, multi-omic analyses, population-based studies and participant / lead for multiple mega-consortia projects. (qub.ac.uk)
These consortia work very closely with NIH and its Rare Diseases Clinical Research Network. (medlineplus.gov)

The International Rare Diseases Research Consortium (IRDiRC) is aimed at promoting international collaboration and advance rare diseases research worldwide, and has as one of its goals to contribute to 1000 new therapies for rare diseases. (biomedcentral.com)

For example, only 1 in 10 people who need assistive products has access to 1 Diseases affecting small numbers of patients, including diseases of genetic origin, infrequent forms of cancer, autoimmune diseases, toxic and/or infectious diseases, and congenital deformities. (who.int)
Gerberding, actually, on the Columbus Day holiday, and she called me up knowing that I was still very active clinically in infectious diseases and said, "Can you be in Florida in two hours? (cdc.gov)

Other studies span a broad range of diseases and address unmet needs like treating hyperphagia in Prader-Willi syndrome, a genetic disease that primarily affects children, and idiopathic osteoporosis in premenopausal women. (fda.gov)
Rare disease affects 1 in 10 people in the US, and 350 million worldwide. (prnewswire.com)
Tampa, Florida - It's a disease that affects about 1 in 50,000 Americas, and just 15,000 worldwide, and the effort to cure it is strong in the Bay area. (curefa.org)
The disease is caused by a gene mutation and equally affects males and females. (chkd.org)
Lymphangioleiomyomatosis (LAM) is a rare idiopathic disease that affects women and is characterized by nonneoplastic peribronchial, perivascular, and perilymphatic proliferation of atypical smooth muscle resulting in vascular and airway obstruction, cyst formation, and a progressive decline in lung function. (medscape.com)
This rare genetic disease affects one in 500,000 people worldwide and causes neurologic problems, insulin-dependent diabetes and other serious conditions. (wustl.edu)

The Canadian Gene Cure Advanced Therapies for Rare Disease (Can-GARD) project & the Precision Child Health Initiative, along with the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children (SickKids), Alexion & Ultragenyx, are seeking applications for a Clinical and Research Post-Doctoral Advanced Genomics in Paediatric Rare Disease Fellowship opportunity. (sickkids.ca)
As an emerging area in paediatrics, this clinical research genomics fellowship offers clinicians the opportunity to pursue independent research and clinical work in partnership with a wide range of professionals to enhance children's health and well-being. (sickkids.ca)
Scientists at the International Agency for Research on Cancer (IARC) have formed the Rare Cancers Genomics Team to develop innovative research projects on rare cancers to improve the prognosis of patients diagnosed with these rare diseases. (who.int)
The Rare Cancers Genomics Team studies the molecular characteristics of rare cancers, to understand their etiology and carcinogenesis processes. (who.int)
With a view to addressing these challenges, increasing the pool of data, and facilitating access to it, the Rare Cancers Genomics Team is strongly committed to open science. (who.int)

The U.S. Food and Drug Administration today announced that it has awarded 15 new clinical trial research grants totaling more than $22 million over the next four years to boost the development of products for patients with rare diseases. (fda.gov)
As the epicenter of clinical trial execution, providing sites with complementary support enables them to execute the study at the highest level. (prweb.com)
While there was a lot of enthusiasm for using artificial intelligence (AI) models in clinical trial recruitment amongst participants at the conference, most efforts still seemed early. (pharmaceutical-technology.com)
Our expertise in biomarker development and custom-validated clinical assessments takes the guess work out of selecting the proper endpoints for your clinical trial. (worldwide.com)
Natural history control groups can provide safety and efficacy data on rare disease treatments, especially when a placebo can't be used, and can help justify a biomarker as a surrogate endpoint and make a trial more comprehensive, says Dr. Nathaniel Katz, chief science officer of WCG Analgesic Solutions. (centerwatch.com)
Of course, countless challenges still remain - from clinical trial recruiting woes, to shifting regulatory landscapes and complexities with incentive structures. (pharmavoice.com)
As pharma wises up to the fact that the current playbook for improving clinical trial diversity has yet to make a meaningful impact, the quest is on to refine that approach. (pharmavoice.com)
The webinar looks at Asia's rare disease clinical trial landscape, and China's increasing popularity as a clinical trial location, to understand the regional advantages on offer. (novotech-cro.com)
Because many have no approved therapies, rare diseases often lack a clearly defined clinical trial roadmap. (alexion.com)
At Alexion, our deep understanding of the patient journey informs our decisions about trial design, including considerations on how to reduce the burden for clinical trial participants and their caregivers. (alexion.com)
The IRDiRC SPCT Task Force met in March 2016 to discuss challenges faced in the design of small studies for rare diseases and present their recommendations, structured around six topics: different study methods/designs and their relation to different characteristics of medical conditions, adequate safety data, multi-arm trial designs, decision analytic approaches and rational approaches to adjusting levels of evidence, extrapolation, and patients' engagement in study design. (biomedcentral.com)
Regulators are often supportive of new clinical trial designs, provided they are well thought through and justified, and they also welcome discussions and questions on this topic. (biomedcentral.com)
What is a clinical trial? (aamds.org)
A clinical trial is a research study that involves volunteers who participate in carefully conducted investigations aimed at discovering better ways to treat, prevent, diagnose, and understand human disease. (aamds.org)
Why participate in a clinical trial? (aamds.org)
What are some risks of being in a clinical trial? (aamds.org)
What happens in a clinical trial? (aamds.org)

In this free webinar, attendees will learn best practices from a CRO with specialized experience supporting rare disease clinical development and Manchester University NHS Foundation Trust, an experienced investigative site for rare diseases. (prweb.com)

This study involves designing a pediatric scale(s) to measure impairment in children with CMT and to test the scale's ability to measure disease progression in patients. (rarediseasesnetwork.org)
No CMT-specific clinical outcome measure currently exists to measure disease severity or progression in children from birth to 3 years of age. (rarediseasesnetwork.org)
This is an important omission since future clinical interventions may be most effective in slowing disease progression if given early in life.The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children ≤3 years of age (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT). (rarediseasesnetwork.org)
Here, we present a case of Hirayama's disease where disease achieved a plateau after 3 years with no further progression. (ac.ir)
The purpose of the registry is to better understand the progression, variability, and natural history of these diseases. (chkd.org)
Anthrax is typically associated with, you know, the sporadic cases that we see are--are, sort of, with animal exposure, and there are three basic forms: you can inhale it and get inhalational anthrax which causes essentially a bad pulmonary disease and rapid progression. (cdc.gov)
Number 5 on the list is interferon gamma 1-b ( Actimmune , Horizon Pharma), approved to decrease the number and severity of infections in patients with chronic granulomatous disease and to delay the progression of severe, malignant osteopetrosis. (medscape.com)

Seven of the awards fund studies of rare cancers, mostly targeting cancers of the brain and peripheral nerves. (fda.gov)
Hepatitis B vaccine prevents hepatitis B-related cancers and other diseases. (who.int)
Rare cancers are cancer types with fewer than 6 newly diagnosed cases per 100 000 people per year. (who.int)
However, taken as a whole, rare cancers account for about 25-30% of all cancer diagnoses and 25% of cancer deaths, representing a substantial burden of disease. (who.int)
Therefore, providing new approaches to study rare cancers that help to overcome the intrinsic limitation of low numbers is key to improve the clinical management of patients. (who.int)

Supports people living with Charcot-Marie-Tooth disease in the United Kingdom by providing personal support, advice, and information. (rarediseasesnetwork.org)
This patient-led, non-profit foundation is focused exclusively on addressing treatments and cures for Charcot-Marie-Tooth disease. (rarediseasesnetwork.org)

The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. (wikipedia.org)
The grants are intended for clinical studies evaluating the safety and effectiveness of products that could either result in, or substantially contribute to, the FDA approval of products targeted to rare diseases. (fda.gov)
Approximately 33 percent of the new grant awards fund studies to accelerate cancer research by enrolling patients with rare forms of cancer. (fda.gov)
Ensuring that sites are supported appropriately from a financial perspective instills confidence, particularly for rare disease studies that can continue for a number of years. (prweb.com)
The company is developing rare disease drugs currently in Phase I and Phase II studies. (pharmaceutical-technology.com)
The standard approaches used in large-scale studies often don't apply to the world of rare disease research, so intelligent innovation and careful consideration can help maximize the impact of all data, even from a small number of patients. (worldwide.com)
Reported healthcare benefits included changes in medication, tailoring of surveillance for patients or families, inclusion in clinical studies, and informing decisions about reproductive choices. (jax.org)
In particular, he is involved in the development of new statistical projects about biomarker associated drug studies, for preclinical phases as well as for early clinical phases. (marionegri.it)
Many studies are being carried out to evaluate the relationship between the methodological quality of studies performed on animal models and the demonstration of the clinical activity of drugs. (marionegri.it)
Some clinical studies evaluate the effectiveness of drugs able to promote the activity of lymphocytes against tumor cells, in particular by removing those brakes that limit the activity of lymphocytes. (marionegri.it)
The main ongoing clinical studies investigating the effectiveness of drug repositioning concern breast and ovarian cancer. (marionegri.it)
Clinical studies on rare tumors have to face with problems of difficult recruitment of patients and with the lack of invested economic resources. (marionegri.it)
Rare disease clinical studies require a CRO with local knowledge across the Asia-Pacific regulatory, cultural and clinical processes as well as proven networks with specialist clinical leaders and organizations. (novotech-cro.com)
With Advanced Clinical, you get experience from studies in more than 50 countries. (advancedclinical.com)
Natural history studies look closely at how specific diseases progress over time. (fda.gov)
Several studies seek to characterize certain subgroups within a disease, identify novel clinical outcome measures and biomarkers, which have the potential to improve the current standard of care and inform future drug development, including gene therapies. (fda.gov)
These studies help doctors find new and better ways to find, prevent, diagnose, treat and control rare health problems. (aamds.org)
Past research studies have led to the approval of many effective treatments for bone marrow failure diseases. (aamds.org)
And, as always, we'll continue to identify gaps where research is needed, and advise PCORI on what kinds of rare disease studies could be most beneficial to patients and those who care for them. (pcori.org)
PCORI has funded more than 30 patient-centered CER studies to help patients and those who care for them make better-informed decisions about treating rare diseases. (pcori.org)

Robinson's contributions included the Human Phenotype Ontology (HPO), work he has spearheaded since 2008 to capture patient disease phenotypes (measurable traits) with a standardized vocabulary . (jax.org)
HPO provides a solid foundation upon which genomic variants can be associated with specific patient phenotypes, as well as identify patients who have an atypical profile for a given disease. (jax.org)
It thus automates the process of finding rare, segregating and predicted pathogenic variants in genes in which the patient phenotypes match previously referenced knowledge from human disease or model organism databases. (jax.org)
The approach is to visualize healthy and diseased cells directly inside patients' eyes to determine the sequence and timing of all the cumulative microscopic changes that give rise to clinically-significant disease phenotypes. (nih.gov)

The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI) . (rarediseasesnetwork.org)

More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). (rarediseasesnetwork.org)
The symptoms and physical findings associated with Rosai-Dorfman disease vary depending upon the specific areas of the body that are affected. (rarediseases.org)
The symptoms and physical findings associated with Rosai-Dorfman disease vary greatly from one person to another depending upon the extent of the disorder and the specific organ systems affected. (rarediseases.org)
Many individuals with Rosai-Dorfman disease do not develop any additional symptoms of the disorder (asymptomatic). (rarediseases.org)
Many common illnesses can have the same symptoms as Ebola disease, including influenza (flu) , malaria, or typhoid fever . (cdc.gov)
Clinical illness usually is mild with symptoms lasting for several days to a week. (cdc.gov)
Treatment Successful treatment cures infection, resolves clinical symptoms, and prevents transmission to others. (cdc.gov)

While referred to as "rare" due to the smaller size of individual patient populations, rare diseases are collectively common and their burden on society is staggering. (pfizer.com)
We aspire to be the world's leading innovator in rare disease by pioneering science that has a profound impact on the lives of underserved patient populations. (pfizer.com)
Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. (biomedcentral.com)

Established by Congress under the Rare Diseases Act in 2002, the RDCRN has included more than 350 sites in the United States and more than 50 in 22 other countries. (wikipedia.org)
The following is a timeline of the Rare Diseases Clinical Research Network: As a result of the Rare Diseases Act of 2002, on February 27, 2003, the ORDR (in conjunction with the National Center for Research Resources (NCRR), the General Clinical Research Consortium (GCRC) Program, and other NIH Institutes) requested applications for a Rare Diseases Clinical Research Network. (wikipedia.org)
The network came about through legislation that passed in November of 2002, known as the Rare Diseases Act. (medlineplus.gov)

Basic research, Mrs. Longpre said, is trying to understand the disease at a molecular or genetic level. (medjournal360.com)

Our current portfolio spans four therapeutic areas, including 1) rare hematology, 2) rare endocrine/metabolic, 3) rare neurology and 4) rare cardiology. (pfizer.com)
Handbook of Clinical Neurology. (ac.ir)

Use the search tools on this page to find the diseases we currently study. (rarediseasesnetwork.org)
This tool allows us to reduce the tedious diagnostic process, this diagnostic Odysseys that families suffer in search of a name for of their disease for several years, and at the same time, to increase scientific knowledge about the workings of the human brain. (nationworldnews.com)

Primary amongst them was the difficulty in identifying patients with rare diseases. (pharmaceutical-technology.com)
For more than thirty years, we have provided critical treatment options for patients with rare diseases. (pfizer.com)
The initial focus was on patients with rare diseases, cancer and infection. (jax.org)
These incentives and others have shown moderate success [ 4 , 5 , 6 ] but the needs of patients with rare diseases are still insufficiently met at present [ 7 ]. (biomedcentral.com)

Other lung diseases that produce cysts also may produce a speckled pattern. (medscape.com)

A natural history/clinical care cohort of 59 participants who met adapted inclusion and exclusion criteria of ITCH was identified from 252 LOGIC participants with ALGS with their native liver. (nih.gov)
One such approved drug, Egaten (triclabendazole), treats fascioliasis, a tropical disease more commonly known as liver fluke infestation. (ajmc.com)
In extremely rare cases, affected individuals may experience abnormal enlargement of the liver and/or spleen (hepatosplenomegaly). (rarediseases.org)
The major cause of liver disease in the United States is ethanol ingestion. (cdc.gov)
Liver disease may have complex effects on drug clearance, biotransformation, and pharmacokinetics. (msdmanuals.com)
Thus, no general rules are available for modifying drug dosage in patients with liver disease. (msdmanuals.com)
The rare congenital polycystic liver is commonly associated with polycystic disease of the kidneys and other organs. (msdmanuals.com)

Alexion's bold and creative approaches are essential to delivering transformational medicines for diseases where few to no options exist. (alexion.com)

Additional approvals were given to assist patients with erythropoietic protoporphyria, neuromyelitis optica spectrum disorder, systemic sclerosis-associated interstitial lung disease, and Duchenne muscular dystrophy. (ajmc.com)
Although historically LAM has been considered an interstitial lung disease, it is now considered to be a low-grade destructive metastasizing neoplasm. (medscape.com)
Typical radiographic findings of reticular interstitial lung disease, recurrent pneumothoraces, and recurrent chylous effusions have been described. (medscape.com)

The grants awarded this year will support needed research in a range of rare diseases that have little, or no, treatment options for patients. (fda.gov)
The conclusion from the abstract states simply: "Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (jax.org)

Key Onsite abstracts presented by Alberto Pedroncelli MD, Head of Clinical Development & Medical Affairs, Global Endocrinology, Recordati AG. (businesswire.com)
Accurate and clinically valid education, including reporting on breakthroughs in research and development, is one of the most valuable tools anyone facing a rare disease can have," says Robert Rosenbloom , CEO of PlatformQ Health. (prnewswire.com)
Personalized rare disease clinical development. (worldwide.com)
Our REDRESS partnership represents a unique opportunity to foster the development of long-term relationships between British and Irish social science researchers with a focus on rare diseases. (qub.ac.uk)
They also share the challenges and critical program strategies that need to be considered to support accelerating a clinical program development in the rare disease space. (novotech-cro.com)
Advanced Clinical has cultivated an extensive resume in partnering on the end-to-end development of new treatments for these conditions. (advancedclinical.com)
Learn more about how our team of experts can help optimize and accelerate your rare disease drug development. (advancedclinical.com)
Input from multiple regulatory agencies is recommended early and throughout clinical development. (biomedcentral.com)
These grants and contracts, which were funded by the FDA's Orphan Products Grants Program , aim to advance the development of medical products to treat rare diseases. (fda.gov)
Through this and other efforts focused on rare diseases, the FDA continues to advance the development and evaluation of safe and effective medical products that help address patients' unmet needs. (fda.gov)
PCORI funded the development of PCORnet®, The National Patient-Centered Clinical Research Network, to address an urgent national need-capacity to conduct patient-centered outcomes research faster, more efficiently, and at lower cost, by leveraging the power of health data, reusable research infrastructure, and unique patient partnerships. (pcori.org)

Because dyspnea is a common finding in a number of respiratory conditions, LAM is often initially diagnosed as asthma, emphysema, or chronic obstructive pulmonary disease (COPD). (medscape.com)

The study also developed an automated diagnostic pipeline to streamline the genomic data- including the millions of variants present in each genome-for clinical interpretation. (jax.org)
ClinPrior represents a significant advance in clinical genomic diagnostics. (nationworldnews.com)
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases. (cdc.gov)

She has expertise in rare diseases, paediatrics, risk and quality, national online training program for special needs assistants, patient and public involvement, advisory board member of children's research network, and is chair of the Irish Rare Disease Research Partnership (RAINDROP project). (qub.ac.uk)
Clinical supervision will be provided by senior staff in the Division of Clinical and Metabolic Genetics and other specialty areas in the Department of Paediatrics and involves observation, report review, and one-to-one supervision sessions. (sickkids.ca)

In this product theater, Dr. Kevin Yuen from the Barrow Neurological Institute and Pituitary Center will review the pathogenesis and treatment of Cushing's Disease within the context of a patient case. (businesswire.com)
ISTURISA (osilodrostat) is a cortisol synthesis inhibitor indicated for the treatment of adult patients with Cushing's disease for whom pituitary surgery is not an option or has not been curative. (businesswire.com)
Founded in 1990, Fondazione Telethon conducts fund raising activities to support research projects that aim to advance the treatment of rare genetic diseases. (rarediseasesnetwork.org)
Only about 5 percent of these diseases have a treatment approved by the Food and Drug Administration. (nih.gov)
Despite the large number of known orphan diseases, it is estimated only about 5% of rare diseases have an approved treatment. (novotech-cro.com)
These new legal frameworks in Asia offer general criteria to accelerate the registration and approvals of drugs for the treatment of rare diseases and have established new rules concerning health insurance coverage, expedited registration, and marketing exclusivity periods for biopharma companies. (novotech-cro.com)
This treatment "helps prevent the most common complication" of the disease called vasoocclusive crisis, a condition that occurs when body tissues don't receive enough oxygen. (ajmc.com)
One of the greatest obstacles facing individuals who suffer from rare diseases is the limited treatment options currently available," said FDA Commissioner Robert M. Califf, M.D. "Since the beginning of the Orphan Products Grants Program in 1983, it has facilitated the approval of more than 80 rare disease products. (fda.gov)
Treatment options are often limited for rare diseases. (aamds.org)
Taking the number 2 spot on the list is orphan drug cerliponase alfa ( Brineura , BioMarin International Ltd), approved last month by the FDA for the treatment of infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a form of Batten disease. (medscape.com)

As a result, real-world data/evidence are being used more frequently to assess new therapeutic approaches in orphan diseases. (nih.gov)
An analysis of clinical end-of-life, diagnostic and therapeutic pathways is performed for patients with severe diseases. (marionegri.it)

With more than 6,000 rare diseases identified around the world, there is a large degree of unmet need. (advancedclinical.com)

RareU" will align and exponentially increase the availability of educational resources for patients, caregivers, advocates, clinicians, and organizations in the rare disease community. (prnewswire.com)
Our advisory panel members represent an array of key organizations, research institutions, and families in the rare disease field, and we all have contacts beyond our own organizations and beyond PCORI. (pcori.org)

The current paper represents a thorough study of a relatively small cohort, 4,660 participants from 2,183 families (family trios-patient and parent-were sequenced when possible) presenting at NHS clinics with rare diseases thought to be of genetic origin. (jax.org)

Supports efforts to transform the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases. (rarediseasesnetwork.org)
Collectively, people living with a rare disease represent one of the largest underserved patient communities in the world, with only 5% of known rare diseases having one or more approved treatments. (pfizer.com)
At Pfizer, we believe that people living with a rare disease, along with the untold number of family members and caregivers who support them, deserve more. (pfizer.com)
In rare diseases, it's become very important, and I think those of us who work a lot in diseases that aren't rare can actually take a page out of the book of people who are studying rare diseases and probably benefit our programs from studying natural history in the way that has been led by people working in the rare disease space," Katz said. (centerwatch.com)
Several thousand rare diseases affect an estimated 30 million people in the United States. (nih.gov)
Together, attendees will raise awareness about rare diseases, the people they affect, and opportunities for new and better treatments. (nih.gov)
There are multiple unmet needs facing rare disease communities, with recent reports from Northern Ireland (NI) and the Republic of Ireland (RoI) stressing urgent research priorities to help people living and working with rare diseases. (qub.ac.uk)
Expertise in psychosocial implications of disease and how best to support people affected, with a focus on developing supportive care networks. (qub.ac.uk)
It is estimated there are about 25 to 30 million people affected in the US while over 45 million people may be suffering from a rare condition in Asia, with 20 million in China alone. (novotech-cro.com)
The low numbers of people living with each rare disease makes it difficult to study. (alexion.com)
Our ability to deliver transformative therapies for people living with rare diseases stems from a deep understanding of patients' lived experiences and close relationships with the rare disease community. (alexion.com)
Rare diseases by definition afflict a limited amount of people. (wustl.edu)
However, according to the National Center for Advancing Translational Sciences (NCATS), the collective impact of rare diseases affect an estimated 30 million people in the United States. (wustl.edu)

Not surprisingly, the paper concludes that the findings from the pilot study support the case for using whole genome sequencing for diagnosing rare disease patients. (jax.org)
When there is clinical suspicion of lymphangioleiomyomatosis, it has been diagnosed on the basis of compatible chest radiographs, pulmonary function tests (PFTs), and computed tomography (CT) findings. (medscape.com)

Fearlessly pursuing today's most pressing rare diseases requires researchers to think differently about R&D - and we remain committed to leading the way. (alexion.com)

UPDATED May 4, 2017 // The world's top 10 most expensive drugs are all orphan drugs for rare and ultrarare diseases, according to a new analysis. (medscape.com)

When it comes to efficient clinical study build, content is king. (outsourcing-pharma.com)
The study of the genotype-phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes. (mdpi.com)
With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. (lu.se)
How do you recommend patients or their loved ones with rare diseases get involved or join a study? (medlineplus.gov)

Global Genes and PlatformQ Health are proud to partner together to overcome this fundamental challenge, launching an interactive online rare disease medical education platform - RareUniversity. (prnewswire.com)
Global Genes works to eliminate rare disease challenges by building awareness, developing patient-focused educational tools, and funding patient care programs and early investigative research. (prnewswire.com)
Its focus on standardized phenotypic information and protein interaction data not only improves the identification of atypical cases, but also effectively predicts the new genes that cause disease whose relationship to human disease is unknown. (nationworldnews.com)
The identification of novel genes and of rare, highly penetrant pathogenic variants is helping to enhance our understanding of genotype-phenotype correlations. (mdpi.com)

In the last month, Biogen acquired the rare disease drugmaker Reata Pharmaceuticals, which received FDA approval for its Friedreich's ataxia drug Skyclarys in March, for $7.3 billion, and AstraZeneca's Alexion deepened its rare disease investment in a deal to buy Pfizer's early-stage gene therapy portfolio for up to $1 billion. (pharmavoice.com)

She discussed the network, which includes 22 groups across the country and conducts research on approximately 200 rare diseases, with NIH MedlinePlus magazine. (medlineplus.gov)

The rare disease market is set for major growth in the decade to come, and pharma companies are securing their footholds now. (pharmavoice.com)

Phenylketonuria (PKU) is a rare inherited disease characterized by an inability to utilize an amino acid called Phe. (chkd.org)

Organisms1

Diseases18

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena7

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20231

Amyotrophic Lateral S8

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20203

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7,0003

20193

Insights5

20223

Treatments for Rare Diseases1

200,0004

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Infectious Diseases2

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Charcot Marie T2

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20023

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