• It is characterised by organic sleep-related symptoms, rapidly progressive dementia (RPD) and sympathetic symptoms. (bmj.com)
  • Amyotrophic lateral sclerosis (ALS) is a rare, rapidly progressive, and always fatal neurodegenerative disease. (worldwide.com)
  • Prion diseases are usually rapidly progressive and always fatal. (cdc.gov)
  • CLN5 is a devastating and rapidly progressive neurodegenerative disease in children that leads to vision loss, cognitive and motor impairment, seizures and, ultimately, premature death," said Jonathan W. Mink, M.D., Ph.D., the Frederick A. Horner MD Distinguished Professor in Pediatric Neurology, Chief of Child Neurology at URMC. (rochester.edu)
  • It is characterized by extensive soft tissue necrosis with possible formation of gas in the subcutaneous tissues, followed by rapidly progressive, potentially fatal. (bvsalud.org)
  • The NF facial infection is rapidly progressive, potentially fatal condition requiring diagnosis and treatment and immediate. (bvsalud.org)
  • As in March, today we have to have an internal dialogue between our scientific scrutiny and clinical compassion," said Liana G. Apostolova, MD, Distinguished Professor in Neurology and the Barbara and Peer Baekgaard Chair in Alzheimer's Disease Research at the Indiana University School of Medicine, who originally voted against the application. (medscape.com)
  • They also provided new information on a biomarker data from a phase 2 study of AMX0035 to treat Alzheimer's disease. (medscape.com)
  • Millions of American's are facing Alzheimer's disease and every 71 seconds someone in America develops the disease. (addiandcassi.com)
  • Alzheimer's disease shares characteristics with Niemann-Pick disease Type C1 a neurovisceral, genetic disease in which cholesterol accumulates in lysosomes, including progressive decline in cognitive ability, amyloid beta plaques in the CNS, and increased levels of tau in the cerebrospinal fluid. (pharmiweb.com)
  • Many of the known risk factors for Alzheimer's disease are associated with cholesterol metabolism. (pharmiweb.com)
  • While our current focus continues to be on the development of novel therapies for two neurodegenerative diseases, Niemann-Pick disease Type C1 and Alzheimer's disease, future activities will include assessing other viable applications of Trappsol ® Cyclo™ technology in order to expand our development pipeline," commented N. Scott Fine, Chief Executive Officer of Cyclo Therapeutics. (pharmiweb.com)
  • With the biologic similarities demonstrated between Niemann-Pick disease Type C1 and Alzheimer's Disease, including cholesterol accumulation in regions of the brain, elevated levels of Tau in cerebrospinal fluid ("CSF"), and amyloid plaques in the brain, the Company believes Trappsol ® Cyclo™ has significant potential to be an effective treatment option for Alzheimer's disease. (pharmiweb.com)
  • Alzheimer's disease is a progressive neurologic disorder that causes the brain to shrink (atrophy) and brain cells to die. (pharmiweb.com)
  • Early-onset Alzheimer's disease occurs between a person's 30s and mid-60s and represents less than 10 percent of all people with Alzheimer's. (pharmiweb.com)
  • As the disease progresses, a person with Alzheimer's disease will develop severe memory and thinking skills impairment, then lose ability to learn, reason, make judgments, communicate and carry out daily activities. (pharmiweb.com)
  • Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. (orpha.net)
  • The University of Rochester Medical Center (URMC) will serve as the lead study site in the U.S. for an experimental treatment being developed by Neurogene for CLN5 Batten disease, a rare and fatal neurodegenerative disorder. (rochester.edu)
  • Leigh syndrome is a fatal progressive neurodegenerative disorder and there is currently no cure. (kadenswish.org)
  • Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disorder. (cdc.gov)
  • Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form called prion. (merckmanuals.com)
  • Overview of Prion Diseases Prion diseases are progressive, fatal, and untreatable degenerative brain disorders. (msdmanuals.com)
  • The disease is untreatable, but it is 97% preventable with the very effective measles vaccine. (outbreaknewstoday.com)
  • In 2005, Dillon was diagnosed with Niemann-Pick Type C, which is a rare, devastating and always fatal disease with only 500 cases world wide. (baltimoresun.com)
  • The U.S. Food and Drug Administration ("FDA") has granted arimoclomol orphan drug designation, Fast Track designation, and rare pediatric disease designation for the treatment of NPC. (yahoo.com)
  • AVROBIO's AVR-RD-04 therapy has been granted rare pediatric disease designation to treat cystinosis in pediatric patients. (contemporarypediatrics.com)
  • The US Food and Drug Administration (FDA) recently granted rare pediatric disease designation to AVR-RD-04, a gene therapy developed by AVROBIO, Inc. (contemporarypediatrics.com)
  • New drugs for treating rare pediatric diseases are given greater support from the FDA's Rare Pediatric Disease Designation and Voucher Program. (contemporarypediatrics.com)
  • AVROBIO receives rare pediatric disease designation from U.S. Food and Drug Administration (FDA) for first gene therapy in development for cystinosis. (contemporarypediatrics.com)
  • Protein misfolding and aggregation in motor neurons are important contributors to the disease process, which ultimately leads to paralysis of skeletal muscles as well as the muscles that enable breathing. (worldwide.com)
  • Infantile-onset Pompe disease (IOPD) is a rare, severe disorder of lysosomal storage of glycogen that leads to progressive cardiac and skeletal myopathy. (wustl.edu)
  • FIO is an ultra-rare skeletal disorder in which the collagen matrix (on which bone mineral is deposited) is disorganized, Dr. Matthew Drake of the Mayo Clinic told Reuters Health in an email, adding that no recognized therapy exists. (medscape.com)
  • GSD type V, also known as McArdle disease, affects the skeletal muscles. (medscape.com)
  • Muscle phosphorylase deficiency adversely affecting the glycolytic pathway in skeletal musculature causes GSD type V. Like other forms of GSD, McArdle disease is heterogeneous. (medscape.com)
  • Indi has a rare metabolic disorder known as mitochondrial disease, which means her cells aren't able to produce enough energy to operate properly. (yahoo.com)
  • Kaden's Wish has been created to raise money and awareness for the Make-A-Wish foundation and the United Mitochondrial Disease Foundation. (kadenswish.org)
  • Kaden has a rare form of mitochondrial disease called Leigh syndrome. (kadenswish.org)
  • The biggest issue caused by Kaden's mitochondrial disease is Dystonia. (kadenswish.org)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • Alexander disease (AxD) is an extremely rare neurological disorder that can cause the destruction of white matter in the brain. (wisc.edu)
  • Now, in a series of recent studies, scientists at the University of Missouri are using whole genome sequencing through the 99 Lives Cat Genome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann-Pick type 1, a fatal disorder in domestic cats. (sciencedaily.com)
  • The genetic mutation identified was located the IQCB1 gene and is associated with progressive retinal atrophy, an inherited degenerative retinal disorder that leads to blindness. (sciencedaily.com)
  • The kitten was found to have two copies of a mutation in the NPC1 gene, which causes Niemman-Pick type 1, a fatal disorder. (sciencedaily.com)
  • In addition, Zevra is also advancing KP1077, a product candidate based on Zevra's prodrug of d-methylphenidate, serdexmethylphenidate ("SDX"), which is currently being evaluated in a Phase 2 trial for the treatment of idiopathic hypersomnia ("IH"), a rare sleep disorder. (yahoo.com)
  • Niemann Pick Type C disease is a very rare, relentlessly progressive and eventually fatal neurodegenerative genetic cholesterol disorder that afflicts my six year old twins. (addiandcassi.com)
  • Pathobiology and treatment of lymphomatoid granulomatosis, a rare EBV-driven disorder. (medscape.com)
  • Wilson disease (WD) is a rare, hereditary disorder of copper metabolism. (biomedcentral.com)
  • Wilson disease (WD) [ 1 ] is a disorder of copper metabolism mediated by autosomal recessive inherited mutations of the ATP7B gene on chromosome 13q. (biomedcentral.com)
  • Cyclo Therapeutics is currently testing the same investigational Trappsol ® Cyclo™ drug in a Phase 3 clinical trial and a long-term extension study for the treatment of Niemann-Pick disease Type C1, a rare, fatal and progressive genetic disorder. (pharmiweb.com)
  • The Prion and Public Health Office within DHCPP fulfills CDC's responsibilities as the lead agency for monitoring the occurrence of human prion diseases in the United States. (cdc.gov)
  • Creutzfeldt-Jakob Disease (CJD) Creutzfeldt-Jakob disease (CJD) is the most common human prion disease. (msdmanuals.com)
  • The office coordinates CDC's activities and programs related to prion diseases as well as to select neurological diseases and syndromes of unknown etiology. (cdc.gov)
  • Arimoclomol, the company's lead candidate, is in clinical development for four orphan diseases: Niemann-Pick disease Type C, Gaucher disease, sporadic i nclusion b ody m yositis, and a myotrophic l ateral s clerosis. (worldwide.com)
  • Home / Featured Stories / FDA Orphan Drug Workshop Makes Filing Applications Easy - Even For Rare Disease Patient Advocates! (addiandcassi.com)
  • At a historic orphan drug workshop held by the U.S. Food and Drug Administration Feb. 25-26 and before World Rare Disease Day 2010, we filed a momentous orphan drug application with the FDA for the treatment of Niemann Pick Type C disease with cyclodextrin. (addiandcassi.com)
  • Approximately 15 other organizations attending the FDA orphan drug workshop filed applications for new rare disease drugs or biologics. (addiandcassi.com)
  • Only one other orphan drug application in history has been filed with the FDA to treat Niemann Pick Type C disease. (addiandcassi.com)
  • 9 Responses to "FDA Orphan Drug Workshop Makes Filing Applications Easy - Even For Rare Disease Patient Advocates! (addiandcassi.com)
  • Veterinary neurologists found a genetic link between degenerative myelopathy (DM) in dogs and amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease in people. (sciencedaily.com)
  • Among patients with AL amyloidosis, a rare, progressive, and fatal disease, newly diagnosed individuals with advanced disease (e.g. (businesswire.com)
  • hATTR amyloidosis is an autosomal dominant disease, meaning it can be inherited from one parent, and is caused by a variant in the transthyretin (TTR) gene. (alnylam.com)
  • Transthyretin amyloidosis (ATTR amyloidosis) is a rare, progressive, and fatal disease characterized by deposition of abnormal, non-native forms of the transthyretin protein in vital organs. (medscape.com)
  • Our research focuses on developing therapies for diseases caused by misfolding of proteins and lysosomal dysfunction. (worldwide.com)
  • Zevra Therapeutics is a rare disease company melding science, data, and patient need to create transformational therapies for diseases with limited or no treatment options. (yahoo.com)
  • Mycophenolate is increasingly utilized as a steroid sparing treatment in autoimmune diseases and similar immune-mediated disorders including Behçet's disease, pemphigus vulgaris, immunoglobulin A nephropathy, small vessel vasculitides, and psoriasis. (wikipedia.org)
  • With infrastructure and talent spanning 60 countries, we execute predictable, successful studies with operational excellence across a range of therapeutic areas, including central nervous system , cardiovascular , metabolic , immune-mediated inflammatory disorders (IMID), oncology and rare diseases . (worldwide.com)
  • The goal of the database is to identify DNA that causes genetic disorders and have a better understanding of how to treat diseases. (sciencedaily.com)
  • Prion diseases , or transmissible spongiform encephalopathies (TSEs), are a family of rare progressive neurodegenerative disorders that affect both humans and animals. (cdc.gov)
  • Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. (edu.au)
  • Gerstmann-Sträussler-Scheinker Disease (GSS) Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion brain disease that typically begins during middle age. (msdmanuals.com)
  • We extend our heartfelt appreciation to the participants in our Phase 1 HNV trial for their role in supporting our mission to develop transformative therapies for people living with DMD and other devastating neuromuscular diseases. (tipranks.com)
  • Duchenne muscular dystrophy (DMD) is a progressive and fatal rare X-linked neuromuscular monogenetic disease with few therapeutic options. (certara.com)
  • The vast majority of cases are sporadic, but rare familial forms have allowed the disease gene to be mapped to chromosome Xq28. (bmj.com)
  • Variably protease-sensitive prionopathy (VPSPr) is a rare sporadic prion disease (identified in 2008). (msdmanuals.com)
  • Objective Elucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI). (bmj.com)
  • Fatal familial insomnia (FFI) is a rare and intractable inherited prion-based disease reported first by Lugaresi et al . (bmj.com)
  • FIPV infection causes a progressive systemic disease called feline infectious peritonitis. (cdc.gov)
  • The fact that the only change they had made in the mice to cause them to have Rosenthal fibers was to add additional copies of the GFAP gene, led Messing and Brenner to suggest that some malfunction of the GFAP gene was what caused Alexander disease. (wisc.edu)
  • Now, we're leading the way in an effort to deliver a new generation of breakthrough treatments across several modalities - small molecule, large molecule/monoclonal antibodies (mAbs), gene therapies and even devices - to potentially unlock the promise of science for the millions with rare diseases for whom the current standard of care falls short. (pfizer.com)
  • This new study also has the potential to inform development of gene therapies for other forms of the disease. (rochester.edu)
  • Amy Dockser Marcus writes frequently about gene therapies and gene editing, citizen science, rare diseases, and other topics. (swiny.org)
  • CELEBRATION, Fla., March 01, 2023 (GLOBE NEWSWIRE) -- Zevra Therapeutics (NasdaqGS: ZVRA) ("Zevra" or the "Company" and formerly KemPharm, Inc.), a rare disease therapeutics company, announced today that it will begin trading under the new ticker symbol "ZVRA" on the Nasdaq Global Select Market at market open today, March 1, 2023. (yahoo.com)
  • AN2 Therapeutics, Inc. (Nasdaq: ANTX), a clinical-stage biopharmaceutical company focused on developing treatments for rare, chronic, and serious infectious diseases with high unmet needs, today reported financial results for the quarter ended March 31, 2023. (financialcontent.com)
  • AN2 Therapeutics, Inc. is a clinical-stage biopharmaceutical company developing treatments for rare, chronic, and serious infectious diseases with high unmet needs. (financialcontent.com)
  • We look forward to commencing the study and the potential to address the need for an effective treatment option for all those affected by this devastating disease," commented Michael Lisjak, Chief Regulatory Officer, Senior Vice President for Business Development of Cyclo Therapeutics. (pharmiweb.com)
  • PH1 is a progressive genetic disease that is potentially life-threatening and often presents with calcium oxalate kidney stones. (alnylam.com)
  • Her ten-part series about an innovative collaboration between parents of children with a rare genetic disease and scientists, called "Trials: A Desperate Fight to Save Kids & Change Science," won the American Association for the Advancement of Science's Kavli Science Journalism Award for excellence in online reporting. (swiny.org)
  • A vaping-related lung disease has claimed the lives of 11 people in the US in recent weeks. (independent.co.uk)
  • In the first quarter we continued to advance our pivotal Phase 2/3 trial evaluating epetraborole for treatment-refractory MAC lung disease with a total of nearly 80 clinical sites active worldwide. (financialcontent.com)
  • MAC lung disease, the most common form of nontuberculous mycobacteria, or NTM, lung disease, is a rare, chronic, and progressive disease which leads to irreversible lung disease and can be fatal. (financialcontent.com)
  • The Company is currently enrolling its Phase 2/3 pivotal trial evaluating once-daily, oral epetraborole for treatment-refractory MAC lung disease at nearly 80 clinical sites. (financialcontent.com)
  • Our initial candidate is epetraborole, which we are studying as a once-daily, oral treatment with a novel mechanism of action for patients with NTM lung disease, a rare, chronic, and progressive infectious disease caused by bacteria known as mycobacteria, that leads to irreversible lung damage and can be fatal. (financialcontent.com)
  • An integrated cell atlas of the lung in health and disease. (nih.gov)
  • Asbestosis is characterized by the following radiographic changes: fine, irregular opacities in both lung fields (especially in the bases) and septal lines that progress to honeycombing and sometimes, in more severe disease, obscuration of the heart border and hemi-diaphragm - the so-called shaggy heart sign [Khan et al. (cdc.gov)
  • The disease affects many organs, usually inducing fatal immunopathologic disease characterized by disseminated pyogranulomas and severe inflammatory damage to serosal membranes. (cdc.gov)
  • Infantile myofibromatosis: Excellent prognosis but also rare fatal progressive disease. (bvsalud.org)
  • All forms of Pompe disease are caused by the same pathology, and thus newborn screening has the potential to identify those affected with the more severe infantile-onset form as well as those with late-onset disease who may not present with symptoms until late in life. (edu.au)
  • However, when offered a theoretical screening test that would only identify infantile-onset Pompe disease, 42.1% of adults with Pompe disease and 53.1% of parents of 'healthy' children preferred this screen, indicating that these stakeholders have some concerns regarding detection of late-onset disease in infancy. (edu.au)
  • Three forms of the disease exist: infantile, juvenile, and adult. (medscape.com)
  • In comparison, current treatments for cystinosis do not halt overall disease progression, and often require taking dozens of pills per day. (contemporarypediatrics.com)
  • Animal studies have shown that the treatment has the potential to halt the key features of disease progression, including vision, motor, cognitive, and behavioral declines. (rochester.edu)
  • Results from a small clinical trial show that the Parkinson's disease drug ropinirole delayed the progression of amyotrophic lateral sclerosis (ALS) by an average of 27.9 weeks. (technologynetworks.com)
  • Now, researchers in the current study report the findings from a clinical trial of ropinirole in a small number of ALS patients, with its findings suggesting ropinirole slowed disease progression over a six-month period. (technologynetworks.com)
  • Prompt diagnosis and treatment of people with malaria can prevent progression to severe disease or death and limit ongoing transmission to local Anopheles mosquitos. (cdc.gov)
  • Radcliffe C, Grant M . Infectious Disease Images: A Remarkable, Free Resource. (yalemedicine.org)
  • Other serious side effects include an increased risk of cancer, progressive multifocal leukoencephalopathy, anemia, and gastrointestinal bleeding. (wikipedia.org)
  • Progressive multifocal leucoencephalopathy (PML) is a rare and often fatal opportunistic infection that has been well reported in patients with rheumatic diseases. (bmj.com)
  • Progressive multifocal leucoencephalopathy (PML) is a rare opportunistic infection of the central nervous system (CNS) encountered in immunosuppressed patients that until recently was primarily the concern of doctors caring for patients with HIV infection, cancer and organ transplants. (bmj.com)
  • For Albee Messing , VMD, PhD, Waisman investigator, the decision to pursue what others deemed a ridiculous idea has led to a potential treatment for a devastating neurological disease. (wisc.edu)
  • Identifying disease-causing DNA abnormalities allows clinicians to better predict an effective course of treatment for the patient. (sciencedaily.com)
  • The goal of genetic testing is to identify disease early, so that effective and proactive treatment can be administered to patients. (sciencedaily.com)
  • Without treatment, cystinosis can lead to end-stage kidney disease. (contemporarypediatrics.com)
  • For more than thirty years, we have provided critical treatment options for patients with rare diseases. (pfizer.com)
  • We filled two binders (one original and one copy) with information on Hydroxy Propel Beta Cyclodextrin (HPBCD) for the treatment of Niemann Pick Type C Disease. (addiandcassi.com)
  • Zavesca is currently under review and the FDA will make a decision in early March as to whether it approves Zavesca for the treatment of Niemann Pick Type C disease. (addiandcassi.com)
  • Based upon recent animal studies, Cyclodextrin appears to have far greater promise for the treatment of NPC disease than Zavesca. (addiandcassi.com)
  • This cooperative program should facilitate many advances including the identification of biomarkers for disease risk, disease severity/activity, and clinical outcome and encourage development of new approaches to prevention, diagnosis, and treatment of many rare diseases beyond those being studied. (webharvest.gov)
  • This trial will move research forward in developing a potentially disease-modifying treatment for CLN5 disease, providing hope to individuals and families where currently none exists. (rochester.edu)
  • At this point for CLN5 disease, what we can offer patients is limited to managing some of their symptoms, and even standard treatment for symptoms like seizures are not consistently effective," said Mink. (rochester.edu)
  • A new era of interest and investigation of PML arrived when, during clinical trials of the immunomodulator natalizumab, an agent directed against α4 integrin approved for treatment of multiple sclerosis (MS), three patients (two with MS and one with Crohn's disease) developed PML. (bmj.com)
  • Collectively, these data have given the rheumatology community pause and an impetus to reflect on this rare complication, including its basic biology, diagnosis and treatment and the risks it may pose to patients. (bmj.com)
  • Matthew Grant, MD, is an infectious diseases specialist who treats patients with vulnerable immune systems, such as those undergoing cancer treatment and transplants. (yalemedicine.org)
  • Clinical trials indicating that initiation of treatment at an earlier disease stage leads to a higher chance of preventing permanent damage have led to the proposition of introducing newborn screening for Pompe disease. (edu.au)
  • Affected patients must obtain lifelong medical treatment, as the disease is fatal if untreated. (biomedcentral.com)
  • HA410 trade name] is indicated for the treatment of chronic hepatitis B in adults with: · compensated liver disease and evidence of immune active disease, i.e. active viral replication, persistently elevated serum alanine aminotransferase (ALT) levels and histological evidence of active inflammation and/or fibrosis. (who.int)
  • We continue to advance our programs across the pipeline to address devastating neurological and rare peripheral diseases caused by protein dysregulation which affect millions of people and their families worldwide. (businesswire.com)
  • ATTR-CM is a rare, progressive, and fatal disease characterized by the accumulation of misfolded transthyretin protein in the heart. (news-medical.net)
  • The new agent, currently known as PRX004 (Prothena Biosciences) is an investigational humanized monoclonal antibody designed to deplete amyloid associated with disease pathology, without affecting the native, normal tetrameric form of the protein. (medscape.com)
  • Calcium oxalate crystals are insoluble and toxic and lead to serious disease manifestations, including recurrent kidney stones, nephrocalcinosis, progressive renal failure, and multiorgan damage from systemic oxalosis once the disease advances. (alnylam.com)
  • thus, the erratic occurrence and unpredictable new disease manifestations of tropism switching are a matter of public health concern. (cdc.gov)
  • Morrisville, NC, USA - Orphazyme A/S (ticker: ORPHA.CO) , a biopharmaceutical company dedicated to developing treatments for patients living with rare diseases , recently announced the completion of enro l lment to its p hase 3 trial of arimoclomol in a myotrophic l ateral s clerosis (ALS). (worldwide.com)
  • Orphazyme is a biopharmaceutical company focused on bringing novel treatments to patients living with life-threatening or debilitating rare diseases. (worldwide.com)
  • The Company's new corporate name, along with the corresponding ticker symbol, embody Zevra's unwavering commitment to the rare disease community as it pursues its primary mission to deliver life-changing treatments to people with rare conditions, their families and caregivers who desperately need better options. (yahoo.com)
  • 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)
  • There are currently no approved treatments that can reverse the symptoms of this disease. (rochester.edu)
  • There is no cure for ALS and no treatments capable of reversing the disease. (technologynetworks.com)
  • On June 5, the Bowie Baysox will host a special fund-raiser for Dillon Papier , a seventh-grader with deep family roots in Bowie who suffers from Niemann-Pick Disease, which affects the victim's metabolism. (baltimoresun.com)
  • Necrotizing fasciitis (NF) of the cervical-facial region is a rare infection that usually affects patients with diseases that lead to systemic immunosuppression. (bvsalud.org)
  • ALS, also known as Lou Gehrig's disease, is a rare and fatal neurological disease that causes degeneration of the motor neurons that control the movement of our muscles. (technologynetworks.com)
  • Malaria is a serious and potentially fatal disease transmitted through the bite of an infective female anopheline mosquito. (cdc.gov)
  • A prion is an abnormal, transmissible agent that is able to induce abnormal folding of normal cellular prion proteins in the brain, leading to brain damage and the characteristics signs and symptoms of the disease. (cdc.gov)
  • Transmissible mink encephalopathy is a rare disease of farm-reared mink associated with feeding of animal wastes contaminated with the agent. (who.int)
  • The age of onset was 47.51±12.53 (range 17-76) years, 106 patients died and disease duration was 13.20±9.04 (range 2-48) months. (bmj.com)
  • MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. (bmj.com)
  • About 1600 patients are affected annually in the United States, Japan, and Europe, and the disease is fatal if untreated in childhood. (contemporarypediatrics.com)
  • Working with patients from across the U.S., the team created the Unified Batten Disease Rating Scale, which tracks and quantifies how the different forms of disease progress over time. (rochester.edu)
  • Due to the rare nature of CNL5, Mink anticipates that patients from across the U.S. will travel to Rochester to participate in the study. (rochester.edu)
  • The contributions of predisposing factors such as underlying disease and immunosuppressive drug selection are incompletely understood but it would appear that patients with systemic lupus erythematosus may be at highest risk. (bmj.com)
  • The disease is progressive, and patients gradually lose control of their muscles, leading to reduced mobility, speech problems and difficulty breathing. (technologynetworks.com)
  • Ropinarole, a drug used in Parkinson's disease, was identified in a screen that used motor neurons derived from induced pluripotent stem cells (iPSCs) of ALS patients. (technologynetworks.com)
  • Current findings report 95% of patients will succumb to the disease. (outbreaknewstoday.com)
  • Distal sensory neuropathy occurs in up to 30% of patients with AIDS, usually late in the disease. (unboundmedicine.com)
  • Whether this study's findings will extend to other patients with FIO is uncertain, Dr. Drake cautioned, particularly because the subjects were brothers, "and thus may have had an unrecognized genetic basis for their disease which might be absent in others with FIO. (medscape.com)
  • Patients with asbestosis may have elevated levels of antinuclear antibody and rheumatoid factors and a progressive decrease in total lymphocyte count with advancing fibrosis. (cdc.gov)
  • However, as with other viral diseases, reexposure to wild-type varicella often leads to reinfection that boosts antibody titers without causing clinical illness or detectable viremia. (cdc.gov)
  • Persons who have progressive varicella may be contagious longer, presumably because their immune response is depressed, which allows viral replication to persist. (cdc.gov)
  • Mylan Laboratories Ltd.), HA410 · compensated liver disease and evidence of immune active disease, i.e. active viral replication, persistently elevated serum ALT levels and histological evidence of active inflammation and/or fibrosis. (who.int)
  • Potential benefits of diagnosis of late-onset disease in infancy were identified as being able to avoid the diagnosis odyssey, access enzyme replacement therapy at the optimal time, and allow individuals to make appropriate life choices. (edu.au)
  • Families in which an infant is identified with the potential for late-onset Pompe disease will need assistance to adapt to and manage this diagnosis, so that anxiety is minimised and unnecessary limitations are not placed on the child. (edu.au)
  • Most people with Alzheimer's have the late-onset form of the disease, in which symptoms become apparent in their mid-60s. (pharmiweb.com)
  • First described in 1950, FIO is an adult-onset, progressive disease that can be mistaken for axial osteomalacia. (medscape.com)
  • Progressive exertional dyspnea with an insidious onset. (cdc.gov)
  • Severe acute respiratory syndrome coronavirus (SARS-CoV), which emerged suddenly in 2002 and caused severe acute respiratory disease in humans, is the most notorious coronavirus. (cdc.gov)
  • On February 27, 2003, ORD in response to the Rare Diseases Act of 2002, P.L. 107-280, released a Request for Applications (RFA) for a Rare Diseases Clinical Research Network together with the National Center for Research Resources (NCRR)/General Clinical Research Consortium (GCRC) Program and in collaboration with other NIH Institutes. (webharvest.gov)
  • approximately 300 people experienced severe disease (most P. falciparum ), and 5 to 10 people with malaria died yearly (3). (cdc.gov)
  • If not treated promptly, malaria may progress to severe disease, a life-threatening stage, in which mental status changes, seizures, renal failure, acute respiratory distress syndrome, and coma may occur. (cdc.gov)
  • Adolescents, adults, and immunocompromised persons usually have more severe disease and are at higher risk for complications. (cdc.gov)
  • Our current portfolio spans four therapeutic areas, including 1) rare hematology, 2) rare endocrine/metabolic, 3) rare neurology and 4) rare cardiology. (pfizer.com)
  • Lymphomatoid granulomatosis is a rare disease of unknown prevalence. (medscape.com)
  • Uncertainty about the incidence and prevalence of ALS, as well as limited information regarding its etiology, supports the need for a surveillance system for this disease [1]. (cdc.gov)
  • ALS is a progressive, fatal neurodegenerative disease affecting nerve cells in the brain and spinal cord that causes loss of motor control. (medscape.com)
  • Nerve conduction studies help diagnose nerve damage or disease. (medlineplus.gov)
  • In a rare second review of a new drug application, a US Food and Drug Association (FDA) advisory panel has voted to recommend approval of a novel drug to treat amyotrophic lateral sclerosis (ALS). (medscape.com)
  • Amyotrophic lateral sclerosis is a rare, fatal, and progressive neurodegenerative disease affecting around 55,000 people globally. (biopharmajournal.com)
  • The symptoms of this disease include enlarged spleen and liver, clumsiness and loss of muscle control, deterioration of speech, seizures, and progressive neurological and intellectual decline. (baltimoresun.com)
  • Liver transplantation (LT) due to WD is a rare but repeatedly occurring event. (biomedcentral.com)
  • Hepatic phosphorylase deficiency or deficiency of other enzymes that form a cascade necessary for liver phosphorylase activation cause the disease. (medscape.com)
  • decompensated liver disease. (who.int)
  • infection typically results in respiratory or enteric disease. (cdc.gov)
  • In contrast, FIPV is rare, but the consequences of infection are devastating. (cdc.gov)
  • Progressive respiratory disease with increasing respiratory failure may result in pneumothorax, infection, and hemorrhage. (medscape.com)
  • Primary subclinical infection with VZV is rare for persons of all ages. (cdc.gov)
  • Infants and young children may be more seriously affected than older children and adults because for the former, Pneumocystis carinii pneumonia may represent primary infection rather than reactivation disease, and because an infant's or young child's immune defenses may be immature. (cdc.gov)
  • Mycophenolic acid is an immunosuppressant medication used to prevent rejection following organ transplantation and to treat autoimmune conditions such as Crohn's disease and lupus. (wikipedia.org)
  • Natalizumab, a biological agent approved for multiple sclerosis and Crohn's disease has the clearest pattern of small but definite risk. (bmj.com)
  • The drug was subsequently removed from the market, but later reintroduced for MS and more recently approved for Crohn's disease, but with significant restrictions and warnings. (bmj.com)
  • Prominent types of prion diseases include Creutzfeldt-Jakob disease (CJD), the prototypic example (usually. (msdmanuals.com)
  • GSD type II, also known as acid maltase deficiency or Pompe disease, is a prototypic lysosomal disease. (medscape.com)
  • Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases. (wisc.edu)
  • We propose to establish a Rare Disease Clinical Research Consortium (RDCRC) at the Children's National Medical Center (CNMC) in Washington, D.C. The RDCRC will draw support from both the Pediatric General Clinical Research Center at CNMC/Georgetown University Medical Center (GUMC) as well as its Mental Retardation and Developmental Disabilities Research Center (MRDDRC). (webharvest.gov)
  • 16 people that developed a rare neurological disease while taking the drug. (wikipedia.org)
  • AHP is a family of rare genetic diseases characterized by potentially life-threatening attacks, and for some people, chronic debilitating symptoms that negatively impact daily function and quality of life. (alnylam.com)
  • It is rare, affecting about 30,000 people in the US, with another 5000 new cases diagnosed each year. (medscape.com)
  • Most people with the disease die within 2 years of diagnosis. (medscape.com)
  • There are over 7,000 known rare diseases that affect approximately 400 million people worldwide. (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 addition to attacks by the immune system, other processes may contribute to the disease in some people. (abilitymagazine.com)
  • Some people continue with this type of MS indefinitely, but if untreated about 50 percent convert to what is termed secondary progressive MS within 10 years. (abilitymagazine.com)
  • 2 The work has also begun to uncover normal variation in the brains of individual people, some of the features that distinguish various disease states, and distinctions among key parts of the human brain and those of our closely related primate cousins. (nih.gov)
  • This is the story of a group of people who tried to force the lab doors open: parents whose children had been diagnosed with a rare and fatal genetic condition known as Niemann-Pick disease type C. The disease prevents cells from processing cholesterol, which leads to the progressive loss of the brain's and the body's ability to function. (swiny.org)
  • Data shows that around 4-11 people out of 10,000 will get a rare but fatal disease called subacute sclerosis panencephalitis (SSPE). (outbreaknewstoday.com)
  • The fatal disease has caused progressive brain damage, leaving her totally dependent on life support, according to evidence presented to the High Court in London. (yahoo.com)
  • Because MS is a disease of the brain, it can cause other brain-related problems. (abilitymagazine.com)
  • This disease leads to swelling and inflammation in the brain. (outbreaknewstoday.com)
  • ALS is a rare, progressive, fatal neurological disease affecting both the upper and lower motor neurons. (cdc.gov)