Clinical trials: Congenital Myopathy
Duchenne Muscular Dystrophy
An Open-Label Study of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy
This is an open-label study to evaluate the safety and tolerability of golodirsen injection in Non-ambulant DMD patients with confirmed genetic mutations amenable to treatment by exon 53 skipping (Golodirsen).
- Trial name
- NCT04708314
- Testing
- Golodirsen 50 MG/1 ML Intravenous Solution [VYONDYS 53]
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Rare Disease Research, LLC
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Facioscapulohumeral Muscular Dystrophy
Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia)
Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common forms of muscular dystrophy, characterized by pronounced skeletal weakness and with a broad spectrum of diseases.
- Trial name
- NCT05178706
- Testing
- upper extremity rehabilitation program, Results of assessment
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Manual Therapy, Myofascial Pain Syndrome
Plantar Pressures After Pressure Release of the Flexor Digitorum Brevis Muscle Versus a Non-emission Laser.
In this study we will test the effects of pressure release on the Flexor digitorum brevis muscle on the plantar pressures variables using a pressure platform.
- Conditions
- Manual Therapy, Myofascial Pain Syndrome, Foot, Flat Foot
- Trial name
- NCT06499545
- Testing
- Pressure release, Non emision Laser
- Where
- Spain
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Mayuben Private Clinic
Oculopharyngeal Muscular Dystrophy
A Study to Evaluate the Safety and Clinical Activity of Intramuscular Doses of BB-301 Administered to Subjects With Oculopharyngeal Muscular Dystrophy With Dysphagia
Subjects who have enrolled in the oculopharyngeal muscular dystrophy (OPMD) natural history study (Study BNTC-OPMD-NH-001) and have completed at least 6 months of follow up in Study BNTC-OPMD-NH-001 may be eligible to participate…
- Trial name
- NCT06185673
- Testing
- BB-301: Dose escalation phase 1b cohort 1, BB-301: Dose escalation phase 1b cohort 2, BB-301: Dose escalation phase 1b cohort 3
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Benitec Biopharma, Inc.
Myotonic Muscular Dystrophy
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients.
- Trial name
- NCT00004769
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
Duchene Muscular Dystrophy
A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy
This is a prospective observational study conducted to evaluate safety, tolerability, and functional outcomes of patients with DMD newly initiating oral givinostat or having started therapy within 6 months as part of routine…
- Trial name
- PROVIDUS (NCT07127978)
- Where
- 9 sites in United States
- Volunteers
- 300 people
- Sponsor
- ITF Therapeutics LLC
Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B
Dysferlinopathy Protein in Peripheral Blood Monocytes.
The objective of the study is to answer the following important questions. Deficiency of the dysferlin protein is the cause of a very rare limb-girdle muscular dystrophy (LGMD-2B) that leads to significant disability.
- Conditions
- Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, Distal Myopathy With Anterior Tibial Onset
- Trial name
- NCT06507215
- Testing
- Protein analysis
- Where
- Spain
- Volunteers
- 149 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Myotonic Dystrophy 1
Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy
The purpose of this study is to determine whether Tideglusib is safe and efficacious in the treatment of adolescents and adults with congenital and juvenile-onset Myotonic Dystrophy.
- Trial name
- NCT02858908
- Testing
- Tideglusib
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- AMO Pharma Limited
Muscular Dystrophy, Oculopharyngeal (OPMD)
Continuation Protocol to Protocol BBCO-001
This will be a multi-center, randomized withdrawal, open-label, non-treatment concurrent control, parallel group study. Patients completing protocol BBCO-001 will be offered the opportunity to enter into this 12-month randomized…
- Trial name
- HOPEMD (NCT02328482)
- Testing
- Tehalose 30gr
- Where
- Canada
- Volunteers
- 9 people
- Sponsor
- Bioblast Pharma Ltd.
Duchenne Muscular Dystrophy, Amyotrophic Lateral Sclerosis
Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
The hypothesis is that a mechanical insufflation-exsufflation (MI-E) is associated with a decrease in the number of intubations and more rapid clinical improvement in children and adults with neuromuscular disease who are…
- Conditions
- Duchenne Muscular Dystrophy, Amyotrophic Lateral Sclerosis, Neuromuscular Diseases
- Trial name
- Nemucough (NCT00839033)
- Testing
- mechanical insufflation - exsufflation, Standard respiratory physiotherapy
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Duchenne Muscular Dystrophy
Study to Assess the Safety, Tolerability, and Efficacy of Viltolarsen in Ambulant and Non-Ambulant Boys With DMD (Galactic53)
This is a phase II, open-label study where weekly doses of 80 mg/kg viltolarsen is administered intravenously over a 48-week treatment period to ambulant and non-ambulant DMD patients over the age of 8 years.
- Trial name
- NCT04956289
- Testing
- Viltolarsen
- Where
- 8 sites in United States, China and 4 more
- Volunteers
- 20 people
- Sponsor
- NS Pharma, Inc.
Central Core Disease, Multi-Minicore Disease
The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies.
- Conditions
- Central Core Disease, Multi-Minicore Disease, Nemaline Myopathy, Centronuclear Myopathy
- Trial name
- READYCOM (NCT06157268)
- Testing
- Natural history and non therapeutical therapy
- Where
- 2 sites in Netherlands
- Volunteers
- 100 people
- Sponsor
- Radboud University Medical Center
Duchenne Muscular Dystrophy
A Phase IIa Study of TAS-205 for Duchenne Muscular Dystrophy
The objective of this study is to evaluate the efficacy after 24-week repeated oral doses of TAS-205 in patients with Duchenne Muscular Dystrophy (DMD) in an exploratory manner.
- Trial name
- NCT02752048
- Testing
- TAS-205
- Where
- 11 sites in Japan
- Volunteers
- 36 people
- Sponsor
- Taiho Pharmaceutical Co., Ltd.
Duchenne Muscular Dystrophy
An Open-Label, Long-Term Extension Study to Evaluate the Safety and Tolerability Deflazacort
This is an open label, long-term extension study in approximately 24 male DMD subjects consisting of children (ages 4-12, inclusive) and adolescents (ages 13-16, inclusive) who participated in the MP-104-CL-005 PK study.
- Trial name
- NCT02295748
- Testing
- Deflazacort
- Where
- 4 sites in United States
- Volunteers
- 24 people
- Sponsor
- PTC Therapeutics
Duchenne Muscular Dystrophy (DMD)
Factors Influencing Physical Activity Levels in Children With Duchenne Muscular Dystrophy: An ICF-CY-Based Study
Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease characterized not only by progressive muscle weakness but also by cognitive, behavioral, and psychosocial impairments.
- Trial name
- NCT07369609
- Volunteers
- 30 people
- Sponsor
- Hacettepe University
Muscular Dystrophy, Duchenne
Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy
This study seeks to develop and validate non-invasive assessments of cardiac and respiratory muscles with magnetic resonance imaging (MRI) to better predict the natural disease progression of Duchenne muscular dystrophy (DMD) in…
- Trial name
- CPI (NCT02195999)
- Testing
- Magnetic Resonance Imaging (MRI), Pulmonary Function Testing (PFT), Metabolic Exercise Testing using stationary bicycle
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Florida
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Duchenne Muscular Dystrophy
Finding the Optimum Regimen for Duchenne Muscular Dystrophy
The Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR DMD) study will compare three ways of giving corticosteroids to boys with Duchenne muscular dystrophy (DMD) to determine which of the three ways increases…
- Trial name
- FOR-DMD (NCT01603407)
- Testing
- Prednisone, Deflazacort
- Where
- 32 sites in United States, Canada and 3 more
- Volunteers
- 196 people
- Sponsor
- University of Rochester
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