Studies muscular dystrophy duchenne. Medical search. Frequent questions

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable? (unicatt.it)
Quantitative MR relaxometry study of muscle composition and function in Duchenne muscular dystrophy. (tmu.edu.tw)
深入研究「Quantitative MR relaxometry study of muscle composition and function in Duchenne muscular dystrophy. (tmu.edu.tw)

Capricor Therapeutics (NASDAQ: CAPR), a biotechnology company focused on the development of transformative cell and exosome-based therapeutics for the treatment and prevention of muscular and other select diseases, announced today its financial results for the third quarter ended September 30, 2023 and provided a corporate update. (biospace.com)
Capricor Therapeutics (NASDAQ: CAPR), a biotechnology company focused on the development of transformative cell and exosome-based therapeutics for the treatment and prevention of muscular and other select diseases, today announced data from two late-breaking posters presented at this year's 28th International Annual Congress of the World Muscle Society (WMS) which took place in Charleston, South Carolina, from October 3-7, 2023. (biospace.com)
Capricor Therapeutics (NASDAQ: CAPR), a biotechnology company focused on the development of transformative cell and exosome-based therapeutics for the treatment and prevention of muscular and other select diseases, announced today its financial results for the second quarter ended June 30, 2023 and provided a corporate update. (biospace.com)
June 22, 2023 -- The U.S. Food and Drug Administration (FDA) on Thursday approved Elevidys, the first gene therapy for the treatment of pediatric patients 4 through 5 years of age with Duchenne muscular dystrophy (DMD). (scienceboard.net)
2023, Muscular Dystrophy Association Inc. All rights reserved. (mda.org)
Duchenne Muscular Dystrophy Gene Therapy in 2023: Status, Perspective, and Beyond. (cdc.gov)

Capricor Therapeutics announced that the Company will host a webinar with the nonprofit organization Parent Project Muscular Dystrophy to review key regulatory details and provide clinical updates that support the advancement of its ongoing HOPE-3, Phase 3 clinical trial of CAP-1002 for treating Duchenne muscular dystrophy. (biospace.com)
I decided that Austin and Max were going to be in any clinical trial that they were eligible for the first time I sat down at a Parent Project Muscular Dystrophy (PPMD) conference , in the audience, and watched scientists talk about MDX mice and how they were curing Duchenne in these mice ," Jenn recounts. (ciscrp.org)

Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). (medlineplus.gov)
Dystrophin deficiency thus, leads to destruction of muscle fibres and progressive muscular weakness. (who.int)
Duchenne and Becker muscular dystrophies are inherited X-linked, recessive disorders characterised by an abnormality in the dystrophin gene and in which elevated serum creatinine kinase activity is observed. (escardio.org)
Both Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked, recessive disorders in which the genetic locus has been identified as an abnormality in the dystrophin gene. (escardio.org)
Duchenne muscular dystrophy (DMD) is a progressive, X-linked neuromuscular disorder caused by mutations in the dystrophin-encoding DMD gene [ 1 ]. (springeropen.com)
The magnitude of dystrophin expression and percent dystrophin-positive fibers achieved in these mdx mice studies, a widely accepted preclinical model for Duchenne muscular dystrophy, are very compelling. (dyne-tx.com)
Duchenne Muscular Dystrophy is a rare genetic disorder, which is caused due to the lack of functional dystrophin protein due to the missing of exons in the dystrophin gene. (delveinsight.com)
While DMD is associated with the absence of any detectable dystrophin, a milder form, Becker muscular dystrophy (BMD), is associated with a reduced amount or abnormal structure of dystrophin. (medpace.com)
Duchenne muscular dystrophy (DMD) is caused by a lack of dystrophin protein. (scite.ai)
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. (scite.ai)
In Becker dystrophy, the mutations result in production of abnormal dystrophin or insufficient dystrophin. (msdmanuals.com)
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy. (cdc.gov)
NIH-supported researchers have been studying ways to deliver dystrophin genes to affected muscles with fewer side effects. (medlineplus.gov)

Current therapies to treat Duchenne muscular dystrophy, a genetic muscle-wasting disease, only work in a small proportion of people with the condition. (scienceboard.net)

Other muscular dystrophies (including Becker muscular dystrophy ) get worse much more slowly. (medlineplus.gov)
Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
Duchenne patients die in their 20s while Becker patients survive to age 40-50. (escardio.org)
The CPK level is highest in Duchenne MD, with less elevation noted in Becker MD. (medscape.com)
Becker dystrophy has later onset and causes milder symptoms. (msdmanuals.com)
In Becker dystrophy, 85% of patients have a deletion, and 10% have a duplication. (msdmanuals.com)
Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations. (cdc.gov)
The patient showed wide of Becker muscular dystrophy, but weakc based gait and tiptoe walking. (who.int)

Today, I would like to report on five exciting studies from March 2022. (medscape.com)

Sarepta Therapeutics is funding the study. (ucdavis.edu)
Sarepta Therapeutics, a leading player focused in developing precision genetic medicines for rare diseases with more than 25 programs ongoing, has recently announced the submission of New Drug Application (NDA) to the US FDA for Casimersen (SRP-4045) for the treatment of Duchenne muscular dystrophy (DMD) with a genetic mutation that is amenable to skipping exon 45 of the Duchenne gene. (delveinsight.com)
With no cure at present, the current US Duchenne Muscular Dystrophy Market is mainly dominated by the use of Glucocorticoids (Prednisone, Prednisolone along with several others) and approved therapies, which include both Exon skipping therapies (Exondys 51 and Vyondys 53) and another approved corticosteroid Emflaza (PTC Therapeutics). (delveinsight.com)
Capricor Therapeutics announced an update on the Company's positive Type-B clinical meeting with the U.S. Food and Drug Administration on the design and execution of HOPE-3, Capricor's pivotal Phase 3 trial with lead asset CAP-1002 in treating Duchenne muscular dystrophy. (biospace.com)
Capricor Therapeutics (NASDAQ: CAPR) today announced positive 24-month safety and efficacy results from its ongoing HOPE-2 open label extension (OLE) study with its lead asset, CAP-1002, for the treatment of Duchenne muscular dystrophy (DMD). (biospace.com)
We hope that the novel analyses of milestone-related disease progression assessed by time-to-event across the lifespan used in this study will provide a framework through which multiple therapeutics targeting various aspects of Duchenne muscular dystrophy pathogenesis can be assessed for long-term efficacy. (medscape.com)

A small initial study using gene therapy has given some children improved muscle strength, but long term effects are unknown as of 2020. (wikipedia.org)
One very promising area for gene therapy is in the muscle-wasting disease Duchenne Muscular Dystrophy, which affects about one in every three thousand males. (thenakedscientists.com)
Sue - Duchenne M.D. is an inherited muscle wasting disease that is usually evident in affected boys around two to five years of age. (thenakedscientists.com)
The present study is about management 8 years old male child with B/L lower limb weakness and calf muscle hypertrophy.etc, so according to Ayurvedic management with Panchkarma procedures and internal medicines given the case was managed. (who.int)
This study illustrates a large variability in upper limb function in adult patients with Duchenne muscular dystrophy, and identifies muscle strength and range of motion as factors strongly associated with upper limb function. (medicaljournals.se)
These results suggest that preserving muscle strength and range of motion in Duchenne patients might be relevant for a better outcome of distal motor function of the upper limb when adult. (medicaljournals.se)
Studies have shown that adult patients with DMD are still able to perform important functional activities with limited distal motor function, but tend to lose this capacity if muscle strength diminishes only slightly (6, 7). (medicaljournals.se)
Magnetic resonance imaging and maps of T1 and T2 values were used to study muscle composition in Duchenne muscular dystrophy (DMD). (tmu.edu.tw)
Duchenne Muscular Dystrophy (DMD) is a specific type of muscular dystrophy characterized by muscle weakness and deterioration. (medpace.com)
Duchenne muscular dystrophy, a condition that affects mostly boys and men, is a genetic disease that causes loss of muscle over time. (everydayhealth.com)
One of the first tests that is typically given looks at the breakdown of muscle cells, while a genetic test to find the mutation causing Duchenne tends to be the final diagnostic test. (everydayhealth.com)
If this is the case, your doctor may recommend a muscle biopsy to look for the telltale signs of Duchenne in muscle cells. (everydayhealth.com)
A creatine phosphokinase (CPK) determination is the most specific test for muscular dystrophy (MD). Elevated CPK levels are indicative of muscle disease. (medscape.com)
Until the advent of molecular biology techniques, muscle biopsy was the definitive test for diagnosing and confirming muscular disease. (medscape.com)
Researchers report muscle stem cells may give rise to rhabdomyosarcoma, a rare cancer that affects the muscles in Duchenne muscular dystrophy. (neurosciencenews.com)
Duchenne muscular dystrophy (DMD) is characterized by rapid wasting of skeletal muscle. (frontiersin.org)
In this study, we detected aberrant mitochondrial morphology, reduced cristae number, and large mitochondrial vacuoles from both male and female mdx mice prior to the onset of muscle damage. (frontiersin.org)
Muscular dystrophies are a family of genetic disorders manifesting primarily by the progressive wasting of skeletal muscle. (frontiersin.org)
Reference: Gomez-Merino E, Bach JR. Duchenne muscular dystrophy: prolongation of life by noninvasive respiratory muscle aids. (doctorbach.com)
It has been estimated that 55% 1,2 to 90% 3-5 of patients with Duchenne muscular dystrophy (DMD) die from pulmonary complications associated with respiratory muscle weakness between 16.2 and 19 years of age and uncommonly after age 25. (doctorbach.com)
Researchers have created a lentiviral gene therapy vector capable of targeting muscle cells to treat the rare disease Duchenne muscular dystrophy (DMD). (scienceboard.net)
Researchers at Johns Hopkins Medicine have discovered that blocking an ion channel increases muscle function and survival in mice with severe Duchenne. (scienceboard.net)
The main thing, and what is novel about our study, is that no one has ever looked inside the muscle to see what is happening with massage, no one looked at the biochemical effects or what might be going on in the muscle itself," said Crane. (sciencedaily.com)
Crane said this study is only a first step in determining the best therapies for promoting recovery from a variety of muscle injuries. (sciencedaily.com)
Shortened telomeres may impede the ability for new muscle regeneration in those with Duchenne Muscular Dystrophy, a new study reports. (neurosciencenews.com)
Refined cells from a type of benign tumor regenerated skeletal muscle stem cells in mice with muscular dystrophy, according to a new study. (comeseeourworld.org)
This laboratory study may be useful to confirm muscle disease as the suspected etiology of toe walking. (medscape.com)
Previous studies have provided moderate-quality evidence that glucocorticoid therapy improves muscle strength or function or both for up to 2 years in patients with Duchenne muscular dystrophy, but there are also clinically significant adverse effects of long-term glucocorticoid treatment. (medscape.com)
Muscular dystrophies are a group of inherited diseases that cause muscle wasting and weakness. (medlineplus.gov)
Some muscular dystrophies are caused by mutations in genes that make important muscle proteins. (medlineplus.gov)

Pune, Maharashtra, India, October 13 2020 (Wiredrelease) MarketDesk -:The report throws light on the competitive scenario of the global Duchenne Muscular Dystrophy Market for the Software market to know the competition at both the domestic and global levels. (pharmiweb.com)

A diagnosis of Duchenne muscular dystrophy (DMD) can come as a shock to parents and caregivers. (healthline.com)
WASHINGTON--( BUSINESS WIRE )--In one of the first studies of healthcare resource utilization and costs for patients with rare disease, the EveryLife Foundation for Rare Diseases reveals that timely diagnosis and screening can shorten and possibly eliminate the diagnostic odyssey while significantly reducing the cost impact of rare disease for individuals, families, and the healthcare system. (businesswire.com)
The study, which was presented at a September 14 briefing hosted by the Rare Disease Congressional Caucus, estimates the avoidable per patient medical costs and productivity losses attributable to delayed diagnosis of those seven rare diseases at between $86,000 and $517,000 per patient. (businesswire.com)
This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 " National Economic Burden of Rare Disease Study ," which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society. (businesswire.com)
The 2021 study also noted that from the first appearance of symptoms it can take more than six years and as many as 17 clinical encounters before a person receives a definitive rare disease diagnosis. (businesswire.com)
Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy. (cdc.gov)
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements. (cdc.gov)
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy. (cdc.gov)

Researchers in the UC Davis Health Department of Physical Medicine and Rehabilitation are launching an international study of the natural history of Duchenne muscular dystrophy (DMD). (ucdavis.edu)
Researchers are currently studying an investigational IgAN oral drug aimed at slowing the progression of kidney disease symptoms. (rareshare.org)
These summaries (also called layperson summaries, plain language summaries, lay language summaries, simple summaries, and trial results summaries) are intended to make the clinical results of these studies understandable and accessible to patients, healthcare providers, caregivers, researchers, and a general audience. (pfizer.com)
Researchers in the Center for Gene Therapy at Nationwide Children's are leading the way in developing new treatments for Duchenne Muscular Dystrophy by participating in studies happening around the world. (nationwidechildrens.org)
For their study, the researchers followed 11 men in their twenties. (sciencedaily.com)
Moose and Jack are on a study to help researchers find effective treatments for Duchenne muscular dystrophy, a debilitating genetic disorder found both in golden retrievers and boys. (comeseeourworld.org)
Our future plans are to expand the CINRG Duchenne Natural History Study (increased numbers of patients with longer-term follow-up), which will yield additional data on the effect of other treatment standards, alone or in combination, that are articulated in internationally recommended care considerations guidelines," the researchers note. (medscape.com)

Duchenne muscular dystrophy (DMD) is a progressive disorder that mostly affects boys. (ucdavis.edu)
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results in progressive damage to both skeletal and cardiac myocytes. (auburn.edu)
Duchenne muscular dystrophy is an inherited disorder. (medlineplus.gov)
Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy. (medlineplus.gov)
The CK concentration is significantly elevated in Duchenne MD (DMD), usually above 1000 U/L. DMD is an X-linked disorder, and there may be a family history of affected males on the maternal side. (medscape.com)
Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. (springeropen.com)
The approval of the therapy demonstrated that the adequacy of dystrophy as a surrogate for winning FDA's accelerated approval in case of DMD, a rare disorder with high unmet needs. (delveinsight.com)
New research suggests that earlier and more effective treatment for Duchenne muscular dystrophy, an inherited life-limiting disorder caused by a genetic. (scienceboard.net)
The study concluded that while heavy drinking is a risk factor for alcoholism, it is not a sufficient cause of the disorder. (neurosciencenews.com)

This article describes two rare diseases - spinal muscular atrophy and Duchenne muscular dystrophy - and how NIH supports research and development on gene therapies to treat them. (medlineplus.gov)

In rare cases, a genetic test for Duchenne will be inconclusive, because not all mutations causing the disease have been firmly identified. (everydayhealth.com)
The main objective of this study is to evaluate the efficacy of SRP-4045 (casimersen) and SRP-4053 (golodirsen) compared to placebo in participants with DMD with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively. (childrenshospital.org)

To investigate the natural course of the spinal deformity in Duchenne muscular dystrophy (DMD) and its clinical relevance, longitudinal series of spinal radiographs and medical records of 46 patients with DMD were reviewed. (nih.gov)
The goal is to study the progression of the disease as patients age and in different settings to increase understanding. (ucdavis.edu)
Joining Henricson as co-principal investigator of the study is Craig MacDonald , professor and chair of PM&R. McDonald is also the lead investigator of a clinical trial to test systemic cell therapy in DMD, which has shown great promise in halting the deterioration of upper limb and heart function in patients. (ucdavis.edu)
Serum samples from 51 DMD patients from a natural history study and 22 age-matched healthy volunteers were profiled using liquid chromatography coupled to mass spectrometry (LC-MS) for discovery of novel circulating serum metabolites associated with DMD. (pitt.edu)
Fourteen metabolites were found significantly altered (1% false discovery rate) in their levels between DMD patients and healthy controls while adjusting for age and study site and allowing for an interaction between disease status and age. (pitt.edu)
In this placebo-controlled trial, patients with Duchenne muscular atrophy and upper-extremity motor function limitations received either cell therapy (eight patients) or placebo (12 patients) every 3 months for 1 year. (medscape.com)
Each of these studies had over 1600 patients, and they were terminated prematurely owing to futility when 50% of the patients were recruited. (medscape.com)
The authors performed a meta-analysis of eight trials - five randomized trials and three observational studies, with approximately 3000 patients - where long-term ECG monitoring, usually with implantable devices, was compared with standard of care, which is intermittent EEG recordings. (medscape.com)
The inevitable and progressive loss of independence in Duchenne Muscular Dystrophy (DMD) patients may have an impact on their siblings' life aspirations. (springeropen.com)
We therefore conducted a cross-sectional study on adult patients with DMD to determine distal motor function of the upper limb. (medicaljournals.se)
Upper limb function of the first 72 patients who were included in the entire study was measured in terms of functioning, quality of life and healthcare needs for adults with DMD and their informal caregivers. (medicaljournals.se)
Because of a large delay in inclusion of the last 8 patients they did not participate in this specific study on upper limb function. (medicaljournals.se)
Recently, exon skipping therapy has been attracting attention for patients with Duchenne muscular dystrophy (DMD). (mdaconference.org)
Patients who have completed Part 1 are allowed to participate in Part 2, wherein a total of six subjects were assigned to this study. (mdaconference.org)
The company has announced the results of Casimersen to placebo in the ESSENCE trial (NCT02500381) study, also known as study 4045-301, a global, randomized double-blind, placebo-controlled Phase 3 study testing the efficacy and safety of casimersen and golodirsen in patients amenable to skipping exons 45 and 53, respectively. (delveinsight.com)
However, patients and families facing the life-threatening condition of DMD are very motivated to participate in research studies. (medpace.com)
To quantitate prolongation of survival for Duchenne muscular dystrophy (DMD) patients with the use of noninvasive intermittent positive pressure ventilation (IPPV) with and without access to a home acute care protocol involving oximetry and the use of mechanically assisted coughing (MAC) to maintain normal oxyhemoglobin saturation (SaO 2 ). (doctorbach.com)
Max's study was only for ambulatory patients. (ciscrp.org)
ReveraGen BioPharma Inc, a privately held corporation, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for vamorolone (VBP15) for the treatment of patients with Duchenne muscular dystrophy . (mda.org)
Although there has been extensive effort in creating animal models to study treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. (scite.ai)
Cardiovascular disease is the leading cause of death in patients with Duchenne Muscular Dystrophy (DMD), but there is significant cardiomyopathy phenotypic variability . (bvsalud.org)
Patients who have Duchenne dystrophy should be offered prednisone or deflazacort and sometimes exon-skipping treatments using antisense oligonucleotides. (msdmanuals.com)
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience. (cdc.gov)
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum. (cdc.gov)
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy. (cdc.gov)
MRIs of the spine in younger patients invariably require sedation services to allow a good resolution study. (medscape.com)
NEW YORK (Reuters Health) - Long-term glucocorticoid treatment is associated with slower progression and reduced risk of death in patients with Duchenne muscular dystrophy, according to results from the Cooperative International Neuromuscular Research Group (CINRG). (medscape.com)

The total diagnosed Duchenne Muscular Dystrophy prevalent population in the 7MM was found to be 27,685 in 2017, estimated DelveInsight. (delveinsight.com)

We look forward to continuing this longitudinal study as long as necessary to establish effective long-term treatments for people with DMD. (ucdavis.edu)
Several new treatments are being studied in trials. (medlineplus.gov)
These kinds of treatments have potential, but they're still being studied to make sure that they are safe and effective. (medlineplus.gov)

Cancer and Myotonic Dystrophy. (cdc.gov)

An article posted on the Rare Genomics Institute website discusses the valuable role of physical therapists in pediatric muscular disorders. (rareshare.org)
It treats a group of rare genetic disorders called spinal muscular atrophies (SMAs) that cause loss of nerve cells that control skeletal muscles (muscles that allow us to move) leading to weakness. (medlineplus.gov)
These kinds of genetic medicines also have the potential for treating genetic defects that cause other neurological disorders including other rare muscular disorders. (medlineplus.gov)

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. (wikipedia.org)

Duchenne muscular dystrophy is a rare and serious genetic condition that worsens over time, leading to weakness and wasting away of the body's muscles. (scienceboard.net)
the decrease in pulmonary function in people with Duchenne muscular dystrophy (DMD) contributes to a significant morbidity due to the progressive weakness of the respiratory muscles. (bvsalud.org)

You can advance the care, treatment and cure for Duchenne muscular dystrophy. (cureduchenne.org)
Serum metabolite profiling in Duchenne muscular dystrophy (DMD) may enable discovery of valuable molecular markers for disease progression and treatment response. (pitt.edu)
Gene therapy, as a treatment, is in the early stages of study in humans. (wikipedia.org)
If this turns out in a larger and longer trial to be an effective therapy, it would really be a breakthrough for the treatment of muscular dystrophy . (medscape.com)
Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. (springeropen.com)
The earlier Duchenne is diagnosed, the earlier treatment can start, possibly delaying disability. (everydayhealth.com)
This will be followed by an open-label extension period in which all participants will receive open-label active treatment for 48 weeks (up to Week 144 of study). (childrenshospital.org)
Today's approval addresses an urgent unmet medical need and is an important advancement in the treatment of Duchenne muscular dystrophy, a devastating condition with limited treatment options that leads to a progressive deterioration of an individual's health over time," Dr. Peter Marks, director of the FDA's Center for Biologics Evaluation and Research, said in a statement. (scienceboard.net)
It was not expected to benefit him, even if he was in the treatment arm of the study, because it was one dose. (ciscrp.org)
Title : Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy Personal Author(s) : Kim, Sunkyung;Zhu, Yong;Romitti, Paul A.;Fox, Deborah J.;Sheehan, Daniel W.;Valdez, Rodolfo;Matthews, Dennis;Barber, Brent J. (cdc.gov)

To-date, no qualitative studies have examined the overall experience of individuals with DMD with respect to symptoms and HRQoL impacts, and none have focused specifically on those who are still ambulatory, or have explored the impact of ataluren. (springeropen.com)
The primary aim of this study was to explore the symptoms, impacts and challenges experienced by ambulatory individuals with nmDMD, and the impact of ataluren. (springeropen.com)

These findings are significant because they support the use of the Australian Labradoodle as a novel animal model for the study of DMD cardiomyopathy, they elucidate pathways and differential gene expression involved in Labradoodle dystrophinopathic cardiomyopathy, and they may aid in the development of therapeutic targets to treat dystrophinopathy-associated cardiac disease. (auburn.edu)
The study will evaluate the safety and efficacy of gene transfer therapy in boys with DMD. (ucdavis.edu)
Furthermore, not long ago, the company announced promising results from a small study of SRP-9003 , its gene therapy for limb-girdle muscular dystrophy Type 2E (LGMD2E). (delveinsight.com)
Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond. (cdc.gov)

Novel Cardiac Imaging Risk Score for Mortality Prediction in Duchenne Muscular Dystrophy. (bvsalud.org)
DMD subjects prospectively enrolled in ongoing observational studies (which included cardiac magnetic resonance [CMR]) were used to validate the risk score . (bvsalud.org)

This study explored the symptoms and impacts of nonsense mutation Duchenne muscular dystrophy and experience with ataluren. (springeropen.com)
Individuals with nonsense mutation Duchenne muscular dystrophy experience a range of interrelated symptoms and functional issues which impact their broader health-related quality of life. (springeropen.com)
Very few qualitative studies have been conducted among individuals with DMD or their caregivers, the majority of which do not focus on the symptoms and impacts of DMD. (springeropen.com)
Instead, doctors will test for the condition when they suspect it on the basis of symptoms or behaviors characteristic of Duchenne . (everydayhealth.com)

These data, combined with the robust exon skipping observed in the heart, diaphragm and quadriceps of non-human primates suggest the potential of DYNE-251 in individuals with Duchenne muscular dystrophy, and I look forward to seeing this program progress into clinical studies," said Francesco Muntoni, FRCPCH, FMedSci, who chairs the pediatric neurology department at University College London and directs the Dubowitz Neuromuscular Centre. (dyne-tx.com)
Rare pediatric studies can be quite challenging from a recruitment standpoint. (medpace.com)
It is important for a DMD study to have experienced board-certified pediatricians who are not only trained in clinical pediatrics, but also have experience designing, conducting, and managing pediatric trials. (medpace.com)
This usually happens when a boy is 3 to 5 years old, and when a parent, caregiver, or doctor recognizes signs of abnormal walking, according to Leigh Maria Ramos-Platt, MD , a pediatric neurologist and the director of the Muscular Dystrophy Association Neuromuscular Clinic at Children's Hospital in Los Angeles. (everydayhealth.com)
Vamshi K. Rao, MD , a pediatric neurologist and the codirector of the Muscular Dystrophy Association Clinic at Lurie Children's Hospital in Chicago, laments that testing for Duchenne often happens much later than is ideal, "because people have not thought about associated features that you could catch early. (everydayhealth.com)

And now, finally, two phase 3 studies were published. (medscape.com)
The VISION-DMD clinical trial program for vamorolone is currently enrolling boys with DMD into clinical trials in US, Canada, Australia, Sweden, UK, and Israel (open label Phase 2a, Phase 2a extension, and Long-term extension studies). (mda.org)

During the study period, 12 (17%) died from complications of DMD. (bvsalud.org)

Please use the search function below to find Plain Language Study Results Summaries for Pfizer-sponsored global clinical trials. (pfizer.com)
We didn't have all the different choices that we have now, a decade later, for clinical trials for Duchenne , " says Jenn. (ciscrp.org)
As double-blind placebo controlled clinical trials of such a duration are not possible, data collected in natural history studies from centers that have longstanding experience in registration oriented clinical trials, this is probably the best we have. (medscape.com)

The key findings and recommendations highlight vital progressive industry trends in the global Duchenne Muscular Dystrophy market, thereby allowing players to improve effective long term policies. (pharmiweb.com)

The study also identifies two genes linked to the tumor's growth. (neurosciencenews.com)

Duchenne muscular dystrophy (DMD ) is an X-linked recessive neuromuscular disease diagnosed in childhood, with an incidence of 1/3500 living male births (1). (medicaljournals.se)

It is the most common type of muscular dystrophy. (wikipedia.org)
The atria appear cular dystrophy (EDMD), the type reported to be involved earlier than the ventricles, here, is less common. (who.int)

The results of this study demonstrate the urgent need for faster and improved diagnostic strategies to help decrease the financial and personal impact of rare diseases on families and the healthcare system," commented Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement at the EveryLife Foundation. (businesswire.com)
That finding was a major impetus for the new study, which showed that individuals whose diagnoses were delayed by an average of five years were approximately four times as likely to see three or more specialists as those with shorter diagnostic odysseys. (businesswire.com)

Duchenne muscular dystrophy (or DMD) is the most common muscular dystrophy in children, and it mostly affects boys in early childhood. (medlineplus.gov)

Where the mean age of survival in 1980 was approximately 20 years, a recent study estimated median age of survival to be 30 years (2) and another study 35 years, with an estimated probability of survival to age 30 years of 85% (3). (medicaljournals.se)
The success of these studies was particularly dramatic in children, increasing the survival rate from around 1 in 5 to around 4 in 5. (ukri.org)

this study is an analytical bibliographic review of scientific articles and was subdivided into four phases: collection, selection, tabulation of data and characterization of evaluation instruments. (bvsalud.org)

Herein, we report data of safety, efficacy, and pharmacokinetics of NS-089/NCNP-02 from this study. (mdaconference.org)
This is a double-blind, placebo-controlled, multi-center study to evaluate the efficacy and safety of SRP-4045 and SRP-4053. (childrenshospital.org)
Clinical efficacy will be assessed at regularly scheduled study visits, including functional tests, such as the 6-minute walk test (6MWT). (childrenshospital.org)

The study, known as the Duchenne Natural History Study, will collect information on the course of the disease in people with DMD who are receiving standard care at clinics around the world. (ucdavis.edu)
Overall, this study yielded promising metabolic signatures that could prove useful to monitor DMD disease progression and response to therapies in the future. (pitt.edu)
Editing cells' genomes with CRISPR-Cas9 might increase the risk that the altered cells, intended to treat disease, will trigger cancer, two studies published on Monday warn - a potential game-changer for the companies developing CRISPR-based therapies. (kqed.org)
Zebrafish are useful in research studies exploring basic biology and human disease mechanisms. (comeseeourworld.org)
The studies confirmed that high blood pressure is a major risk factor for heart disease and stroke, and that treating it substantially reduces this risk. (ukri.org)
Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study. (cdc.gov)
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. (cdc.gov)
This study is important as it provides an innovative way to measure disease progression," she said. (medscape.com)

Conditions in which CK is mildly elevated or normal include spinal muscular atrophy, neuropathies, and congenital myopathies. (medscape.com)

It is a randomized, double-blind, placebo-controlled study. (ucdavis.edu)

Connecting with these organizations continues to help to facilitate visibility of the studies and generate interest from both Investigators and families. (medpace.com)
Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review. (cdc.gov)

Anatomy19

Organisms7

Diseases38

Chemicals and Drugs46

Analytical, Diagnostic and Therapeutic Techniques and Equipment21

Psychiatry and Psychology3

Phenomena and Processes40

Disciplines and Occupations2

Information Science3

Health Care3

Function in Duchenne Muscular3

20236

Parent Project Muscular Dystrophy2

Dystrophin13

Treat Duchenne muscular1

Becker8

20221

Therapeutics6

Muscle30

20201

Diagnosis8

Researchers7

Disorder9

Therapies to treat1

Mutations2

Patients27

Prevalent1

Treatments3

Myotonic Dystrophy1

Disorders3

Severe1

Weakness2

Treatment10

Ambulatory2

Gene4

Cardiac2

Symptoms4

Pediatric5

Phase2

Complications1

Clinical Trials3

Progressive1

Identifies1

Recessive1

Type2

Diagnostic2

Affects boys1

Survival2

Evaluation1

Efficacy3

Disease8

Spinal1

Placebo1

Families2