Clinical trials: Congenital Myopathy
Mitochondrial Diseases, Mitochondrial Myopathies
The KHENERGY Study
Mitochondrial Diseases are rare, progressive, multi-system, often-early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS
- Trial name
- KHENERGY (NCT02909400)
- Testing
- KH176
- Where
- Netherlands
- Volunteers
- 20 people
- Sponsor
- Khondrion BV
Fibrodysplasia Ossificans Progressiva (FOP)
A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)
Primary Objective(s): To describe the demographic characteristics of people living with FOP and a matched cohort of non-FOP people living in the United States (U.S.) To describe the prevalence of clinical characteristics of…
- Trial name
- NCT06064656
- Testing
- Non-Interventional
- Where
- United States
- Volunteers
- 131 people
- Sponsor
- Regeneron Pharmaceuticals
FSHD - Facioscapulohumeral Muscular Dystrophy
1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy
An investigation of disease progression in adult danish patients with facioscapulohumeral muscular dystrophy. The disease progression is followed for a year with two test-days, including functional muscle tests and a MRI scan of…
- Trial name
- FSHD (NCT02159612)
- Testing
- MRI
- Where
- Denmark
- Volunteers
- 45 people
- Sponsor
- Grete Andersen, MD
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Arthrogryposis, Craniofacial Abnormalities
Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities.
- Conditions
- Arthrogryposis, Craniofacial Abnormalities, Posttraumatic Stress Disorder, Depressive Disorder
- Trial name
- FSS-QLS (NCT01307475)
- Testing
- PTSD Checklist-Specific, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale
- Where
- 2 sites in United States, Guatemala
- Volunteers
- 6 people
- Sponsor
- Freeman-Sheldon Research Group, Inc.
Duchenne Muscular Dystrophy, Cardiomyopathy
Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
The objective is to determine whether nebivolol, a beta-blockade drug, can prevent the development of heart disease in patients with Duchenne muscular dystrophy aged 10 to 15 year-old.
- Conditions
- Duchenne Muscular Dystrophy, Cardiomyopathy, Heart Failure
- Trial name
- NEBIDYS (NCT01648634)
- Testing
- Nebivolol
- Where
- France
- Volunteers
- 51 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Duchenne Muscular Dystrophy
A Phase 1b Study of SMT C1100 in Subjects With Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to determine whether increasing doses of SMT C1100 are safe, well tolerated and achieve appropriate blood levels in patients with Duchenne Muscular Dystrophy (DMD).
- Trial name
- NCT02056808
- Testing
- SMT C1100
- Where
- 4 sites in United Kingdom
- Volunteers
- 12 people
- Sponsor
- Summit Therapeutics
Duchenne Muscular Dystrophy
Study of UC-MSC in DMD Patients
The primary objective of this study is to provide UC-MSC treatment to patients with DMD. Secondary objectives will be to further evaluate treatment-related adverse events as well as changes in DMD-related functional…
- Trial name
- NCT06579352
- Testing
- Human Umbilical Cord Mesenchymal Stem Cells (UC-MSC)
- Where
- 2 sites in United States
- Volunteers
- 35 people
- Sponsor
- MED Institute Inc.
Duchenne Muscular Dystrophy
First in Human SAD/MAD Safety and PK Study With Adult DMD Safety and PK Cohort
This is a first-in-human (FIH), Phase 1 study of orally administered SAT-3247 in healthy adult volunteers (HVs) and adult participants with DMD to determine safety, tolerability, pharmacokinetics and pharmacodynamics.
- Trial name
- NCT06565208
- Testing
- SAT-3247
- Where
- 2 sites in Australia
- Volunteers
- 77 people, healthy volunteers welcome
- Sponsor
- Satellos Bioscience, Inc.
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with…
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Cardiomyopathy
- Trial name
- NCT07515235
- Where
- Greece
- Volunteers
- 65 people
- Sponsor
- Aristotle University Of Thessaloniki
Duchenne Muscular Dystrophy
This is a Study to Get More Information About Non Ambulatory Boys & Men With Duchenne Muscular Dystrophy
Many therapeutic trials in DMD exclude non-ambulatory boys and men. Rate of progression in these non-ambulatory patients has been studied but consensus has not been reached for what measures are most reliable and reproducible.
- Trial name
- DMD (NCT01098708)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Washington University School of Medicine
Duchenne Muscular Dystrophy
Intermittent vs Alternate Daily Regimen of Prednisolone in Ambulatory Boys With Duchenne Muscular Dystrophy
The alternate-day regimen is hypothesized to reduce hypothalamic-pituitary-adrenal (HPA) axis suppression and decrease steroid-related toxicity.
- Trial name
- NCT07787689
- Testing
- Alternate-day prednisolone, Intermittent prednisolone
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- Muhammad Aamir Latif
Neuromuscular Diseases in Children, Respiratory Function Impaired
Respiratory Functions, Thoracoabdominal Movements and Exercise Capacity in Neuromuscular Diseases
The clinical trial titled "Investigation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases" aims to evaluate the respiratory functions, thoracoabdominal movements, and exercise…
- Conditions
- Neuromuscular Diseases in Children, Respiratory Function Impaired, Respiratory Insufficiency, Duchenne Muscular Dystrophy
- Trial name
- NCT06756633
- Testing
- Respiratory Function Test, Structured light plethysmography, 6 Minute Walking Test
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Lokman Hekim University
Duchenne Muscular Dystrophy (DMD), Cardiomyopathy
Modeling Mortality in Duchenne Muscular Dystrophy Cardiomyopathy: Identification of Surrogate Outcome Measures for DMD Drug Trials
Dystrophin associated heart dysfunction is a leading cause of death in patients with Duchenne and Becker Muscular dystrophy (DMD/BMD) and Duchenne and Becker muscular dystrophy carriers (MDC); however, the evolution of heart…
- Conditions
- Duchenne Muscular Dystrophy (DMD), Cardiomyopathy, Becker Muscular Dystrophy, Carrier of Duchenne Muscular Dystrophy
- Trial name
- NCT07674758
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Vanderbilt University Medical Center
Duchenne Muscular Dystrophy
The Effect of Telerehabilitation of Patients With Duchenne Muscular Dystrophy
The aim of this study is to investigate the effect of a telerehabilitation approach to patients with Duchenne Muscular Dystrophy and evaluate patients' motor function, parents' anxiety and depression levels before and after the…
- Trial name
- NCT04782440
- Testing
- Telerehabilitaton, Home exercise
- Volunteers
- 20 people
- Sponsor
- Marmara University
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
Muscular Dystrophies
Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol
This is a single arm, open-label continued access protocol of drisapersen for the treatment of male subjects with Duchenne muscular dystrophy (DMD) having dystrophin mutations correctable by drisapersen-induced DMD Exon 51…
- Trial name
- NCT01890798
- Testing
- Drisapersen
- Sponsor
- GlaxoSmithKline
Inherited Mitochondrial Disease
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical…
- Trial name
- NCT05218655
- Testing
- Vatiquinone
- Where
- 26 sites in United States, France and 5 more
- Volunteers
- 101 people
- Sponsor
- PTC Therapeutics
Duchenne Muscular Dystrophy (DMD), Viscoelastic Property
Duchenne Muscular Dystrophy and the Viscoelastic Properties of Upper Limb Muscles
Muscular dystrophies are hereditary and progressive skeletal muscle diseases that cause degeneration and loss of strength in the muscles.
- Trial name
- NCT07435116
- Where
- Turkey (Türkiye)
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Sanko University
Antiphospholipid Syndrome (APS), Bullous Pemphigoid (BP)
Phase 1b Trial of RAY121 in Immunological Diseases (RAINBOW Trial)
This Phase 1b basket trial will investigate the safety, tolerability, pharmacokinetics, pharmacodynamics, immunogenicity and preliminary efficacy of RAY121, a inhibitor of classical complement pathway, after multiple dose…
- Conditions
- Antiphospholipid Syndrome (APS), Bullous Pemphigoid (BP), Behçet's Syndrome (BS), Dermatomyositis (DM)
- Trial name
- NCT06371417
- Testing
- RAY121
- Where
- 77 sites in United States, Australia and 18 more
- Volunteers
- 144 people
- Sponsor
- Chugai Pharmaceutical
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