Clinical trials: Congenital Myopathy
Duchenne Muscular Dystrophy
Historically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy
While it has been known for many years that corticosteroid use benefits boys with Duchenne Muscular dystrophy (DMD), most clinicians do not consider treating until after age 3 or 4 years of age.
- Trial name
- NCT02167217
- Testing
- Prednisolone
- Where
- 6 sites in United States
- Volunteers
- 25 people
- Sponsor
- Washington University School of Medicine
Cerebral Palsy, Congenital, Muscle Spasticity
Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy
Cerebral palsy (CP) is the most common neuromuscular disorder among children, resulting from a non-progressive injury during early brain development which leads to impairment of movement and posture.
- Trial name
- NCT02462018
- Testing
- WalkAide
- Volunteers
- 20 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
X Linked Myotubular Myopathy
Tamoxifen Therapy for Myotubular Myopathy
This is a phase 1 / 2, randomized, double-blinded, single cross-over study, with a washout period between treatment regimens, to test the efficacy and safety of tamoxifen therapy to improve motor and respiratory function in males…
- Trial name
- TAM4MTM (NCT04915846)
- Testing
- ApoTamox 10mg
- Where
- 4 sites in United States, Canada and 1 more
- Volunteers
- 6 people
- Sponsor
- James Dowling
Duchenne Muscular Dystrophy
A Device for Rapid, Painless, Bedside Muscle Evaluation of Children
The purpose of this protocol is to perform Electrical Impedance Myography (EIM) testing on healthy children and children with duchenne muscular dystrophy so as to develop a new, convenient tool for the office based assessment of…
- Trial name
- NCT02340923
- Where
- 5 sites in United States
- Volunteers
- 327 people, healthy volunteers welcome
- Sponsor
- Skulpt, Inc.
Muscular Dystrophy, Duchenne Type
Trunk Oriented Exercises Versus Whole-body Vibration for Duchenne Muscular Dystrophy
The abdominal muscles play an important role in stabilizing the trunk and providing postural stability. Children with Duchene muscular dystrophy have weak muscles, which may impair postural adjustments.
- Trial name
- NCT05688072
- Testing
- trunk oriented exercise, whole body vibration
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Duchenne Muscular Dystrophy
Evaluation of Brain Dysfunction in Patients with Duchene Muscular Dystrophy
To study the cognitive function \& psychiatric aspects of patients with DMD by specific psychometry tests \& its relation to quality of life of the patients To evaluate brain structural changes using MRI and correlate them to the…
- Trial name
- NCT06732011
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Assiut University
DM1, Muscular Dystrophies
Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
AOC 1001-CS2 (MARINA-OLE) (NCT05479981) is a Phase 2 extension of the AOC 1001-CS1 (MARINA) (NCT05027269) study to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of multiple-doses of AOC 1001…
- Conditions
- DM1, Muscular Dystrophies, Myotonic Dystrophy, Myotonic Dystrophy 1
- Trial name
- MARINA-OLE (NCT05479981)
- Testing
- AOC 1001
- Where
- 8 sites in United States
- Volunteers
- 37 people
- Sponsor
- Avidity Biosciences, Inc.
Arthrogryposis Multiplex Congenita (AMC)
Pediatric and Adult Registry for Patients With ARThrogryposis
The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)
- Trial name
- PARART (NCT05673265)
- Where
- France
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Tetraplegia, Tetraplegia/Tetraparesis
[BrainConnexion] - Neurodevice Phase I Trial
This study aims to evaluate the safety of a wireless implantable neurodevice microsystem in tetraplegic patients, as well as the efficacy of the electrodes for long-term recording of neural activities and the successful control…
- Conditions
- Tetraplegia, Tetraplegia/Tetraparesis, Spinal Cord Injuries, Amyotrophic Lateral Sclerosis
- Trial name
- NCT03811301
- Testing
- BrainConnexion
- Where
- Singapore
- Volunteers
- 5 people
- Sponsor
- National Neuroscience Institute
Hereditary Spastic Paraplegia
Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
Hereditary spastic paraplegias constitute a heterogeneous group of diseases with the common predominant feature of spasticity of the lower limbs.
- Trial name
- SPASTOX (NCT02604186)
- Testing
- Botulinum Toxin Injections
- Where
- Brazil
- Volunteers
- 55 people
- Sponsor
- University of Campinas, Brazil
Myotonic Dystrophy 1, Myotonic Dystrophy 2
Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study
The natural history of brain affection in myotonic dystrophy types 1 and 2 is still unknown. The investigators designed a 5-year longitudinal neuropsychological and neuroimaging follow-up study to address this issue.
- Trial name
- NCT02729597
- Testing
- medical history, neurological clinical examination, neuropsychological testing
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bonn
Muscular Dystrophy, Duchenne
Phase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy
The PolarisDMD study is a Phase 3, global study to evaluate the efficacy and safety of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD.
- Trial name
- PolarisDMD (NCT03703882)
- Testing
- Edasalonexent
- Where
- 40 sites in United States, Australia and 6 more
- Volunteers
- 131 people
- Sponsor
- Catabasis Pharmaceuticals
Shoulder Pain, Neuromuscular Diseases
Understanding Control and Mechanisms of Shoulder Instability in FSHD
The aim of this study is to identify factors for shoulder instability in people with Facioscapulohumeral dystrophy (FSHD). FSHD is a non-life limiting condition with symptoms presenting in the second decade of life (Evangelista…
- Conditions
- Shoulder Pain, Neuromuscular Diseases, Shoulder Injuries, Facio-Scapulo-Humeral Dystrophy
- Trial name
- NCT05239520
- Testing
- 3D movement analysis with surface electromyography and ultrasound
- Where
- United Kingdom
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Liverpool
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Hyperkalemic Periodic Paralysis, Hypokalemic Periodic Paralysis
Hyper- and Hypokalemic Periodic Paralysis Study
The purpose of this study is to compare Dichlorphenamide with placebo (an inactive substance) for prevention of episodes and for improvement of strength in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis.
- Trial name
- HYP-HOP (NCT00494507)
- Testing
- Dichlorphenamide (double-blind), Dichlorphenamide (open-label)
- Where
- 12 sites in United States, Italy and 1 more
- Volunteers
- 71 people
- Sponsor
- University of Rochester
Carrier of Duchenne Muscular Dystrophy
Myocardial Involvement in Carriers of Duchenne Muscular Dystrophy: An MRI-study
Carriers of Duchenne muscular dystrophy (DMD) often have no severe symptoms of the scelet muscles, but they may develop a poor heart function due to the involvement of the heart muscle.
- Trial name
- NCT01712152
- Where
- Austria
- Volunteers
- 20 people
- Sponsor
- Hospital Rudolfstiftung
Spinal Muscular Atrophy, Muscular Dystrophy
National Registry for Egyptian Pediatric Neuromuscular Diseases
Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.
- Conditions
- Spinal Muscular Atrophy, Muscular Dystrophy, Muscle Diseases, Myasthenic Syndromes
- Trial name
- NCT02124616
- Where
- Egypt
- Volunteers
- 200 people
- Sponsor
- Ain Shams University
Myotonic Dystrophy Type 1 (DM1)
Breathlessness Assessment in Adult Patients With Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases in adults. As respiratory dysfunction is the most common cause of death in patients with DM1, a respiratory disease progression must be monitored…
- Trial name
- NCT04835298
- Testing
- Dyspnea
- Where
- France
- Volunteers
- 34 people
- Sponsor
- CHU de Reims
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- ACT DMD (NCT01826487)
- Testing
- Ataluren
- Where
- 55 sites in United States, Australia and 16 more
- Volunteers
- 230 people
- Sponsor
- PTC Therapeutics
Becker Muscular Dystrophy
Effect of Modulating the nNOS System on Cardiac, Muscular and Cognitive Function in Becker Muscular Dystrophy Patients
This study is done to evaluate whether treatment with the drug sildenafil (Revatio®) can improve muscular, cardiac, cerebrovascular or cognitive function in patients with Beckers muscular dystrophy when compared to placebo…
- Trial name
- NCT01350154
- Testing
- Sildenafil
- Where
- Denmark
- Volunteers
- 17 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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