Clinical trials: Congenital Myopathy
Duchenne Muscular Dystrophy
AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.
Open-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.
- Trial name
- NCT04240314
- Testing
- scAAV9.U7.ACCA
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Megan Waldrop
Amyotrophic Lateral Sclerosis, Brainstem Stroke
Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit
This project adds to non-invasive BCIs for communication for adults with severe speech and physical impairments due to neurodegenerative diseases.
- Conditions
- Amyotrophic Lateral Sclerosis, Brainstem Stroke, Muscular Dystrophies, Parkinson's Disease and Parkinsonism
- Trial name
- BCI-FIT (NCT04468919)
- Testing
- BCI-FIT multi-modal access, BCI-FIT adaptive signal modeling, BCI-FIT active querying
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Duchenne Muscular Dystrophy
The Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory :PedsQLTM.
There isn't specific Health related quality of life measure for children with DMD in French. The aim of this study is to validate the French version of the Pediatric Quality of Life Inventory 3.0 Duchenne Muscular Dystrophy…
- Trial name
- ValPedsQLDMD (NCT03513367)
- Testing
- Duchenne Muscular Dystrophy of the PedsQL ™ 3.0 scale, The following data of motor function
- Where
- France
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Pompe Disease
Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)
Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase.
- Trial name
- POEM (NCT05092230)
- Where
- Martinique
- Volunteers
- 100 people
- Sponsor
- University Hospital Center of Martinique
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma.
- Conditions
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome
- Trial name
- DANNIgene (NCT06147414)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 550 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cerebral Palsy, Myelomeningocele
Ready, Set, Go! A Physical Fitness Intervention for Children With Mobility Challenges
Barriers to keeping and maintaining fitness as a young person with a disability exist across many domains of access to community locations such as fitness centers, so looking outside of these establishments may be necessary to…
- Conditions
- Cerebral Palsy, Myelomeningocele, Arthrogryposis, Motor Skills Disorders
- Trial name
- NCT04789746
- Testing
- adapted Chicago Run running program
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Northwestern University
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Revatio for Heart Disease in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
This study, supported by Charley's Fund, Inc., is being done to determine if the drug Revatio®(also known as Sildenafil), as compared to placebo (an inactive substance that looks like the study drug, but contains no medication)…
- Trial name
- REVERSE-DBMD (NCT01168908)
- Testing
- Sildenafil
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Duchenne Muscular Dystrophy
A Study of EDG-5506 in Children With Duchenne Muscular Dystrophy (LYNX)
The LYNX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics and biomarkers in children with Duchenne muscular dystrophy including a randomized, double-blind, placebo-controlled part A, followed by an…
- Trial name
- NCT05540860
- Testing
- Sevasemten Dose 1, Sevasemten Dose 2, Sevasemten Dose 3
- Where
- 14 sites in United States
- Volunteers
- 76 people
- Sponsor
- Edgewise Therapeutics, Inc.
Duchenne Muscular Dystrophy
Extension Study of Drisapersen in DMD Subjects
This is a phase IIIb, multi-centre, open-label extension study in male subjects with DMD who previously have been treated with drisapersen, aiming at assessing the safety and efficacy of drisapersen.
- Trial name
- NCT02636686
- Testing
- Drisapersen
- Where
- 39 sites in United States, Argentina and 18 more
- Sponsor
- BioMarin Pharmaceutical
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
Increase Muscle Strength in Patients With Muscular Dystrophy
Efficacy Safety of Granulocyte Colony-stimulating Factor Treatment Children and Adolescents With Muscular Dystrophy
Importance: Currently the gold standard treatment for ambulant patients is corticosteroids. Granulocyte colony-stimulating factor (G-CSF) has been reported to exert the proliferation of satellite cells, the regulation of myoblast…
- Trial name
- NCT02814110
- Testing
- Granulocyte colony-stimulating factor (Filgrastim)
- Where
- Poland
- Volunteers
- 27 people
- Sponsor
- Medical University of Bialystok
Paramyotonia Congenita, Nondystrophic Myotonia
Using MRI in Patients With Non-dystrophic Myotonia to Access Muscle Contractility
The aim of this project is (1) to investigate whether or not structural muscle abnormalities could be a consequence of the disorder and (2) to provide further clinical description of this rare phenotype.
- Trial name
- NCT04808388
- Testing
- MRI
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Muscular Dystrophies
Study of Albuterol and Oxandrolone in Patients With Facioscapulohumeral Dystrophy (FSHD)
This is a study to determine whether albuterol or oxandrolone, alone or in combination, are able to increase strength and muscle mass in patients with FSHD.
- Trial name
- NCT00027391
- Testing
- Albuterol, Oxandrolone
- Where
- United States
- Volunteers
- 160 people
- Sponsor
- FDA Office of Orphan Products Development
Rare Diseases, Mitochondrial Diseases
A Multi-Dimensional Model of cAre and transItion for Patients With cOmplex RAre Diseases
Over the past century, the progress in biomedical sciences gave outstanding contributions to the understanding of human conditions, and even curing some of them.
- Conditions
- Rare Diseases, Mitochondrial Diseases, Muscular Dystrophies, Dysmorphic Disorder, Body
- Trial name
- AD-MAIORA (NCT07558213)
- Testing
- Etiopathogenetic diagnosis, Functional diagnosis
- Where
- Italy
- Volunteers
- 136 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Duchenne Muscular Dystrophy
Motor Imagery on Children With DMD on Gait and Balance Functions
The most common muscular dystrophy among pediatric neuromuscular diseases is Duchenne Muscular Dystrophy (DMD). There is no consensus on a standardized physiotherapy and rehabilitation program or exercise prescription in DMD.
- Trial name
- NCT05601986
- Testing
- Physiotherapy and Rehabilitation Program, Additional Motor Imagery Training to Physiotherapy and Rehabilitation Program
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people
- Sponsor
- Gülsena Utku
Facioscapulohumeral Muscular Dystrophy
Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)
Study A083-02 is a multi-center, Phase 2 study to evaluate the safety, tolerability, pharmacodynamics (PD), efficacy, and pharmacokinetics (PK) of locally-acting ACE-083 in patients with Facioscapulohumeral muscular dystrophy…
- Trial name
- NCT02927080
- Testing
- ACE-083
- Where
- 24 sites in United States, Canada and 1 more
- Volunteers
- 95 people
- Sponsor
- Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)
Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT01009294
- Testing
- Ataluren, Chronic Corticosteroid Therapy
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- PTC Therapeutics
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Cardiomyopathy, Arrhythmia
Genetics of Cardiovascular and Neuromuscular Disease
We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy.
- Conditions
- Cardiomyopathy, Arrhythmia, Muscular Dystrophy
- Trial name
- NCT00138931
- Testing
- Blood draw (genetic testing)
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of Chicago
LGMD2B, Miyoshi Myopathy
Deflazacort in Dysferlinopathies
The present study is designed to assess the natural history in a one year pre-phase of the trial and evaluate therapeutic efficacy and side effects of deflazacort in LGMD2B/MM patients in a placebo-controlled trial.
- Conditions
- LGMD2B, Miyoshi Myopathy, Dysferlinopathy
- Trial name
- NCT00527228
- Testing
- deflazacort
- Where
- Germany
- Volunteers
- 25 people
- Sponsor
- Ludwig-Maximilians - University of Munich
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