Clinical trials: Congenital Myopathy
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Muscular Dystrophies, Duchenne Muscular Dystrophy
Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy
Muscular dystrophies are inherited disorders in which the skeletal and heart muscles become progressively weaker, sometimes leading to permanent disability.
- Conditions
- Muscular Dystrophies, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy
- Trial name
- NCT00873782
- Testing
- Retrograde high pressure transvenous perfusion with normal saline
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- University of North Carolina, Chapel Hill
Arthrogryposis Multiplex Congenita, AMC-Arthrogryposis Multiplex Congenita
Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
The aim of our study is to evaluate the correlation between quantified fibro-adipous infiltration of muscles on MRI assessed by MERCURI Score and the functional abilities (deficiencies, activity limitations and social…
- Conditions
- Arthrogryposis Multiplex Congenita, AMC-Arthrogryposis Multiplex Congenita, Pediatric ALL
- Trial name
- AMUSE (NCT05393375)
- Testing
- No intervention
- Where
- France
- Volunteers
- 97 people
- Sponsor
- University Hospital, Grenoble
MELAS Syndrome
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 3 years.
- Trial name
- NCT05255328
- Testing
- Glutamine oral supplement
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Hospital Universitario 12 de Octubre
Tetraplegia, Functional Tetraplegia
Study of Home Use of the Jaco Robotic Manipulation Device by Individuals With Tetraplegia
For all individuals deprived of active and functional motor control of the upper limbs to perform grasping tasks, the restoration of a grasping function becomes a priority.
- Conditions
- Tetraplegia, Functional Tetraplegia, Spinal Cord Injury, Muscular Dystrophy
- Trial name
- TETRAJACO (NCT07680361)
- Testing
- Use of the JACO robotic arm for a period of 2 months
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Association APPROCHE
Limb Girdle Muscular Dystrophy
Stem Cell Therapy in Limb Girdle Muscular Dystrophy
The purpose of this study was to study the effect of stem cell therapy on the course of the disease in patients with Limb Girdle Muscular Dystrophy.
- Trial name
- NCT02050776
- Testing
- Autologous bone marrow mononuclear cell transplantation
- Where
- India
- Sponsor
- Neurogen Brain and Spine Institute
Duchenne Muscular Dystrophy
Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies.
- Trial name
- NCT05016908
- Where
- 2 sites in United States
- Volunteers
- 100 people
- Sponsor
- Massachusetts General Hospital
Respiratory Failure
Respiratory Care in Intensive Care Unit for Neuromuscular Patients
Retrospective multicentric observational study exploring the population of adult neuromuscular patients presenting a respiratory distress requiring their admission in an Intensive Care Unit (ICU) for ventilatory support.
- Trial name
- NCT02936908
- Testing
- Ventilatory support
- Where
- 4 sites in France
- Volunteers
- 300 people
- Sponsor
- Hospices Civils de Lyon
Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue.
- Conditions
- Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy, Myotonic Dystrophy Type 1
- Trial name
- NCT00082108
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Spinal Cord Injury, Amyotrophic Lateral Sclerosis
iBCI Optimization for Veterans With Paralysis
VA research has been advancing a high-performance brain-computer interface (BCI) to improve independence for Veterans and others living with tetraplegia or the inability to speak resulting from amyotrophic lateral sclerosis…
- Conditions
- Spinal Cord Injury, Amyotrophic Lateral Sclerosis, Brain Stem Infarctions, Locked-in Syndrome
- Trial name
- NCT05470478
- Testing
- Mobile neural decoding platform (mobile iBCI)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- VA Office of Research and Development
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Effectiveness of 5-week Digital Respiratory Practice in Children With Duchenne and Becker Muscular Dystrophies.
The purpose of this study is to analyze the effectiveness of a 5-weeks respiratory digital intervention program in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.
- Conditions
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Muscular Dystrophy
- Trial name
- DMDrespy2024 (NCT06363526)
- Testing
- Digital respiratory intervention program
- Where
- Spain
- Volunteers
- 12 people
- Sponsor
- University of Malaga
Muscular Dystrophy, Duchenne
An Open-Label Extension Study for Patients With Duchenne Muscular Dystrophy Who Participated in Studies of SRP-5051 (Vesleteplirsen)
The purpose of this extension study is to evaluate the safety, tolerability, and pharmacokinetics of repeat administrations of SRP-5051 (vesleteplirsen) in participants with Duchenne muscular dystrophy (DMD) who participated in…
- Trial name
- NCT03675126
- Testing
- SRP-5051
- Where
- 8 sites in United States, Canada
- Volunteers
- 15 people
- Sponsor
- Sarepta Therapeutics, Inc.
FSHD - Facioscapulohumeral Muscular Dystrophy
Ten Year Follow-up in FSHD: the FOCUS 3 Study
This study aims to assess longitudinal data in 170 adult and 30 pediatric genetically and clinically well-defined facioscapulohumeral dystrophy (FSHD) patients.
- Trial name
- FSHD-FOCUS 3 (NCT06911190)
- Where
- Netherlands
- Volunteers
- 200 people
- Sponsor
- Radboud University Medical Center
Mitochondrial Diseases, Mitochondrial Myopathies
Nicotinamide Riboside and Mitochondrial Biogenesis
Mitochondria are important parts of the cell that are responsible for producing energy. The amount of energy they produce depends on how much energy the body needs to function and this energy production can be severely impaired…
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Progressive External Ophthalmoplegia, Progressive Ophthalmoplegia
- Trial name
- NCT03432871
- Testing
- Nicotinamide Riboside
- Where
- United Kingdom
- Volunteers
- 13 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
Arthritis, Rheumatoid Arthritis
Delivery of Enhance Fitness Trial
Arthritis is a common condition in the United States, and a leading cause of pain and disability. Physical exercise is recommended for managing arthritis, but access to evidence-based exercise programs is limited, particularly in…
- Conditions
- Arthritis, Rheumatoid Arthritis, Fibromyalgia, Gout
- Trial name
- DEFT (NCT05275348)
- Testing
- Tele-Enhance Fitness, In-person Enhance Fitness
- Where
- United States
- Volunteers
- 310 people
- Sponsor
- University of Washington
Rheumatoid Arthritis, Rheumatic Diseases
Prevalence of Musculoskeletal Complaints in Nursing Home Residents
The goal of this observational study is to investigate the prevalence of joint complaints in nursing home residents with and without dementia. Primary objective: Number of tender or swollen joints. Secondary objectives: 1.
- Conditions
- Rheumatoid Arthritis, Rheumatic Diseases, Musculoskeletal Diseases, Musculoskeletal Diseases or Conditions
- Trial name
- NCT06235710
- Where
- Netherlands
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1)
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders
The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD).
- Conditions
- Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- NCT04907162
- Testing
- Beck depression inventory fast screen, German Pain Inventory, Brief Pain Inventory
- Where
- Germany
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- LMU Klinikum
Duchenne Muscular Dystrophy
A Study on Safety and Effectiveness of Long-term Treatment With Vamorolone in Boys With Duchenne Muscular Dystrophy
This study aims to assess safety and effectivness of long-term treatment with vamorolone in boys with Duchenne Muscular Dystrophy (DMD) who have completed prior studies with vamorolone.
- Trial name
- GUARDIAN (NCT06713135)
- Testing
- vamorolone 40 mg/mL oral suspension
- Where
- 18 sites in Belgium, Czechia and 7 more
- Volunteers
- 80 people
- Sponsor
- Santhera Pharmaceuticals
Systemic Lupus Erthematosus, Sjogren's Syndrome
Mass Spectrometry-based Immune Profiling in Autoimmune Diseases
Based on mass spectrometry flow method, this study analyzed the typing of new T, B, NK and DC cell subsets in peripheral blood of common autoimmune diseases and their correlation with disease activity, aiming at establishing an…
- Conditions
- Systemic Lupus Erthematosus, Sjogren's Syndrome, Inflammatory Myopathies, Systemic Sclerosis (SSc)
- Trial name
- NCT07188285
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Peking University People's Hospital
Duchenne Muscular Dystrophy
Phase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients Duchenne Muscular Dystrophy
This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy
- Trial name
- AVANCE1 (NCT05753462)
- Testing
- Phase 1, SQY51, Phase 2a, SQY51 (cohort 1), Phase 2a, SQY51 (cohort 2)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Sqy Therapeutics
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