Clinical trials: Congenital Myopathies, open to volunteers
Muscular Dystrophies, Myopathies
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Trial name
- NCT06666816
- Testing
- inapplicable
- Where
- 2 sites in Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Centronuclear Myopathy
Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
Twenty patients with centronuclear myopathy and twenty age- and sex-matched, muscle-healthy controls will undergo diagnostic examination.
- Trial name
- MOSAIC (NCT07021820)
- Testing
- MSOT
- Where
- Germany
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
Duchenne Muscular Dystrophy
A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)
This is a multicenter, open-label, non-randomized study to investigate the safety, tolerability, and efficacy of a single intravenous (IV) infusion of SGT-003 in participants with Duchenne muscular dystrophy.
- Trial name
- NCT06138639
- Testing
- SGT-003
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 60 people
- Sponsor
- Solid Biosciences Inc.
Gait Impairment, Cerebral Palsy (CP)
Clinical Investigation to Validate the Safety and Performance of the ABLE Kids Device in Pediatric Patients With Neurological Gait Disorders in a Clinical Setting
The primary objective of the study is to validate the safety and clinical performance of the ABLE Kids device in pediatric patients with neurological gait disorders or muscular weakness during a 10-session gait training program…
- Conditions
- Gait Impairment, Cerebral Palsy (CP), Neuromuscular Diseases (NMD), Spinal Cord Injuries (SCI)
- Trial name
- NCT07745712
- Testing
- ABLE Kids
- Where
- Spain
- Volunteers
- 15 people
- Sponsor
- ABLE Human Motion S.L.
Duchenne Muscular Dystrophy (DMD)
An Open-Label Extension Study to Evaluate the Long-term Safety and Efficacy of BMN 351 in Participants With Duchenne Muscular Dystrophy
This open-label extension study aims to evaluate the long-term safety and tolerability of weekly BMN 351 infusions, as well as to assess the effect of BMN 351 on physical function, in participants with DMD who participated in the…
- Trial name
- NCT07573631
- Testing
- BMN 351
- Where
- 6 sites in Italy, Netherlands and 3 more
- Volunteers
- 18 people
- Sponsor
- BioMarin Pharmaceutical
Intermediate AMD
A Clinical Trial Evaluating the Safety and Efficacy of a New Light Combination Therapy Addressing Intermediate AMD
The proposed clinical investigation wants primary to validate the safety of the innovative light therapy approach and in second priority provide insight and confirmations on therapeutic effect.
- Trial name
- retinaSEES-PoC (NCT06557369)
- Testing
- reSEES
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Oculox Technologies SA
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
Registry for Duchenne and Becker Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked, recessive, progressive, and degenerative neuromuscular disorder that affects approximately one in 5,000 newborn boys.
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Dystrophinopathy Symptomatic Female Carrier
- Trial name
- FAIR-DMD (NCT07402122)
- Where
- 30 sites in Austria, Germany
- Volunteers
- 1,500 people
- Sponsor
- Dr. Andreas Ziegler
Myopathy, Muscular Dystrophies
Muscle Health Measurements Using Electrical Impedance Myography
This study is being done to further develop a device, the mScan, to measure muscle health as compared to measurements of muscle health using MRI (magnetic resonance imaging).
- Conditions
- Myopathy, Muscular Dystrophies, Myositis, Myofibrillar Myopathy
- Trial name
- NCT07502989
- Testing
- Electrical Impedance Myography
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Steinert's Disease, Myotonic Dystrophy 1
Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease)
The study team hypothesize that non-diabetic patients with Myotonic dystrophy type I (DM1) will improve their symptoms, especially their motor deficit which is the main feature of the disease, because of the splicing defect…
- Conditions
- Steinert's Disease, Myotonic Dystrophy 1, Metformin
- Trial name
- METFORMYO (NCT05532813)
- Testing
- Treatment taken
- Where
- France
- Volunteers
- 142 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
Myotonic Dystrophy 1
A Clinical Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1
The purpose of this study is to learn about the effects of an investigational medicine, PGN-EDODM1, to see how safe and tolerable multiple administrations of PGN-EDODM1 are for people with myotonic dystrophy type 1 (DM1) compared…
- Trial name
- FREEDOM2-DM1 (NCT06667453)
- Testing
- PGN-EDODM1
- Where
- 12 sites in Canada, New Zealand and 2 more
- Volunteers
- 24 people
- Sponsor
- PepGen Inc
Facioscapulohumeral Muscular Dystrophy, FSHD
A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD
A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)
- Conditions
- Facioscapulohumeral Muscular Dystrophy, FSHD, FSHD - Facioscapulohumeral Muscular Dystrophy, FSHD1
- Trial name
- FORTITUDE-3 (NCT07038200)
- Testing
- AOC-1020
- Where
- 46 sites in United States, Canada and 8 more
- Volunteers
- 200 people
- Sponsor
- Avidity Biosciences, Inc.
Myotonic Dystrophy Type 2, Myotonic Dystrophy Type 1
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life.
- Trial name
- BraCE-DM2 (NCT05854433)
- Testing
- Non-interventional study
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Duchenne Muscular Dystrophy
The U.K. NorthStar Clinical Network
The goal of this natural history study is to capture the natural history of Duchenne Muscular Dystrophy (DMD) in children and adults in the United Kingdom. Children and adults with DMD will be invited to join.
- Trial name
- NS (NCT06711692)
- Where
- 26 sites in United Kingdom
- Volunteers
- 300 people
- Sponsor
- University College, London
Duchenne Muscular Dystrophy (DMD)
Evaluation of the Safety, Tolerability, and Efficacy of LE051 in Patients With Duchenne Muscular Dystrophy
The purpose of this study is to evaluate the safety, tolerability, and efficacy of LE051 intravenous therapy in DMD patients treated with exon 51 skipping therapy.
- Trial name
- NCT06900049
- Testing
- LE051
- Where
- China
- Volunteers
- 12 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Arthrogryposis Multiplex Congenita, Piezo2 Mutation Gain of Function
Piezo2-related Arthrogryposis & physiopathOLOgy 3
Study type: Observational, non-interventional, single-center, descriptive study. Goal of the study: The goal of this observational study is to characterize the intensity, variability, and qualitative features of pain in patients…
- Trial name
- PAOLO3 (NCT07360574)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- University Hospital, Grenoble
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Duchenne Muscular Dystrophy (DMD), Muscular Dystrophy, Duchenne
Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)
The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment rostudirsen (DYNE-251) administered intravenously (IV) every 4 weeks to ambulatory Duchenne muscular dystrophy (DMD) participants, 4 to 18…
- Conditions
- Duchenne Muscular Dystrophy (DMD), Muscular Dystrophy, Duchenne, Muscular Dystrophy (DMD), DMD
- Trial name
- FORZETTO (NCT07608432)
- Testing
- Zeleciment Rostudirsen (DYNE-251)
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Dyne Therapeutics
Duchenne Muscular Dystrophy
Wearable Technology to Evaluate Hyperglycemia and HRV in DMD - Longitudinal Aim
Duchenne Muscular Dystrophy (DMD) is an X-linked disorder that causes muscle wasting, cardiopulmonary failure, and premature death.
- Trial name
- NCT06093100
- Testing
- wearable technology
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Vanderbilt University Medical Center
Systemic Lupus Erythematosus, Inflammatory Myopathy
BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
The objective of this study is to evaluate the efficacy and safety of BCMA/CD19 chimeric antigen receptor (CAR)-modified T cells in the treatment of autoimmune diseases.
- Conditions
- Systemic Lupus Erythematosus, Inflammatory Myopathy, Systemic Sclerosis (SSc), ANCA-associated Vasculitis
- Trial name
- NCT06794008
- Testing
- BCMA-CD19 CAR-T therapy
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Peking University People's Hospital