Clinical trials: Congenital Myopathies
Duchenne Muscular Dystrophy
PDE Inhibitors in DMD Study (Acute Dosing Study)
PDE5A inhibition, which boosts NO-cGMP signaling, will relieve functional muscle ischemia and restore normal blood flow regulation (i.e., functional sympatholysis) during exercise in boys with DMD.
- Trial name
- NCT01580501
- Testing
- Tadalafil and Sildenafil
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Cedars-Sinai Medical Center
Limb Girdle Muscular Dystrophy
Cell Therapy in Limb Girdle Muscular Dystrophy
The purpose of this study was to study the effect of stem cell therapy on Limb Girdle Muscular Dystrophy patients.
- Trial name
- NCT02245711
- Testing
- Stem Cell
- Where
- India
- Sponsor
- Neurogen Brain and Spine Institute
Duchenne Muscular Dystrophy
A Study to Evaluate the Safety and Tolerability of PF-06939926 Gene Therapy in Duchenne Muscular Dystrophy
This is a first-in-human/first-in-patient, multi-center, open-label, non-randomized, ascending dose, safety and tolerability study of a single intravenous infusion of PF-06939926 in ambulatory and non-ambulatory subjects with…
- Trial name
- NCT03362502
- Testing
- PF-06939926
- Where
- 22 sites in United States
- Volunteers
- 23 people
- Sponsor
- Pfizer
Duchenne Muscular Dystrophy
Phase I/II Study of SRP-4053 in DMD Patients
This is a first-in-human, multiple-dose 2-part study to assess the safety, tolerability, efficacy, and pharmacokinetics of SRP-4053 in Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 53 skipping.
- Trial name
- NCT02310906
- Testing
- SRP-4053
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 39 people
- Sponsor
- Sarepta Therapeutics, Inc.
Executive Dysfunction, Occupational Problems
Investigation of the Relationship Between Executive Functions and Occupational Performance of Children With Duchenne Muscular Dystrophy
The effects of Duchenne muscular dystrophy and its treatments on executive functions and occupational performance are under-mentioned in the literature.
- Conditions
- Executive Dysfunction, Occupational Problems, Duchenne Muscular Dystrophy
- Trial name
- NCT06868784
- Testing
- Evaluations
- Where
- Turkey (Türkiye)
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Lokman Hekim University
Oculopharyngeal Muscular Dystrophy
Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) Patients
The Purpose of this study is to assess the Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Oculopharyngeal Muscular Dystrophy (OPMD) Patients.
- Trial name
- HOPEMD (NCT02015481)
- Testing
- Cabaletta
- Where
- 4 sites in United States, Canada and 1 more
- Volunteers
- 25 people
- Sponsor
- Bioblast Pharma Ltd.
Post-acute Infectious Syndrome (PAIS), Post-COVID 19 Condition (PCC or Long COVID)
CD19-B Cell Depletion in PAIS-ME/CFS Patients
Post-acute infection syndromes (PAIS) are long-lasting health problems that can develop after an infection. They include post-COVID-19 syndrome and similar illnesses following other infections.
- Conditions
- Post-acute Infectious Syndrome (PAIS), Post-COVID 19 Condition (PCC or Long COVID), Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)
- Trial name
- PIONEER_PAIS (NCT07724834)
- Testing
- Inebilizumab
- Where
- Germany
- Volunteers
- 38 people
- Sponsor
- Charite University, Berlin, Germany
Muscular Dystrophies
A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration
The purpose of the extension phase of this study is to determine whether Drisapersen is effective in the treatment of boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.
- Trial name
- NCT01910649
- Testing
- Drisapersen
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
X-linked Myotubular Myopathy
Myotubular Myopathy Event Study
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function.
- Trial name
- MTMES (NCT01840657)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Cure CMD
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
Myotonic Dystrophy Type 1 (DM1)
Technology Assisted Rehabilitation for Upper Limb Function in Myotonic Dystrophy Type 1
Myotonic Dystrophy type 1 (DM1) is a genetic multisystem disease causing muscle weakness and myotonia. As a result, upper limb function might become impaired.
- Trial name
- Technorehab (NCT05560438)
- Testing
- Tyromotion Amadeo and Armeo Senso
- Where
- Norway
- Volunteers
- 6 people
- Sponsor
- University of Oslo
Duchenne Muscular Dystrophy
Peak Cough Flow and Cough Clearance in Patients With Muscular Dystrophy
This study is to determine whether physiologic measures (peak cough flow, measures of respiratory muscle strength including MIP, MEP ,SNIP, and spirometry) can predict spontaneous cough clearance (as measured by a nuclear…
- Trial name
- NCT02034305
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- University of Pittsburgh
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii)…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-NMD1 (NCT05200702)
- Testing
- Knee-hip Powered Soft Exoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland)
- Where
- France
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Myotubular Myopathy
Myotubular Myopathy Genetic Testing Study
Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). The clinical spectrum is variable and ranges from individuals who require a wheelchair and full time breathing support to…
- Trial name
- NCT01817946
- Testing
- Genetic Testing
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Cure CMD
Aneurysms, Arteriovenous Malformations
Neurosurgical Outcome Network
The evaluation of neurosurgical outcomes varies from center to center, and the predictive factors that determine these outcomes are not fully known or shared.
- Conditions
- Aneurysms, Arteriovenous Malformations, Cavernomas, Skull Base Tumors
- Trial name
- NEON (NCT06724029)
- Where
- 27 sites in Italy
- Volunteers
- 4,500 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Duchenne Muscular Dystrophy (DMD)
Digital Monitoring of Upper Limb Function in Non-Ambulant DMD
Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder caused by the absence of dystrophin, leading to progressive muscle degeneration.
- Trial name
- Acti-nRoll (NCT07664124)
- Testing
- Performance of the Upper Limb (PUL) Test, Brook test, Dynamometric measurements of muscle strength
- Where
- Belgium
- Volunteers
- 50 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
Duchenne Muscular Dystrophy, Upper Limb Function
Pulmonary and Upper Limb Functions in Duchenne Muscular Dystrophy
Although it is known that the functions of pulmonary and upper limb is affected in late stage of Duchenne Muscular Dystrophy (DMD) negatively, the investigators do not have clear information about its early stage.
- Conditions
- Duchenne Muscular Dystrophy, Upper Limb Function, Respiratory Function Test
- Trial name
- NCT03552874
- Testing
- The Performance of Upper Limb Questionnaire (PUL)
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Neuromuscular Diseases
Muscle Oxygenation in Effort in Neuromuscular Diseases
Previous studies showed modifications of muscle oxygenation parameters in muscular dystrophies du to an impairment or an absence of dystrophin.
- Trial name
- OXYNEMU (NCT02789059)
- Testing
- muscle oxygenation
- Where
- 3 sites in France
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Muscular Dystrophies, Spinal Muscular Atrophy
Schulze Muscular Dystrophy Ability Clinical Study
The primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home…
- Conditions
- Muscular Dystrophies, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy
- Trial name
- NCT05409079
- Testing
- Abilitech Assist
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- AbiliTech Medical Inc.
Age-Related Macular Degeneration, Allergies
Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives
To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Conditions
- Age-Related Macular Degeneration, Allergies, Alpha-Gal Syndrome, Alzheimer Disease
- Trial name
- NCT05635266
- Testing
- Specimen sample
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences