Clinical trials: Metabolic Myopathies
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
MELAS Syndrome
Nitric Oxide Production in MELAS Syndrome
Introduction Baylor College of Medicine and Texas Children's Hospital are recruiting individuals with MELAS syndrome for a clinical study.
- Trial name
- NCT01339494
- Testing
- Arginine and citrulline supplementations
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
The investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular…
- Conditions
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, PLS, Motor Neuron Disease
- Trial name
- NCT01459302
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Massachusetts, Worcester
Glucocorticoid-Associated Osteopenia and Osteoporosis
Alendronate Osteoporosis Study
This trial will test the hypothesis that among 20 children and adolescents from Children's Hospital, Boston with Crohn's disease, ulcerative colitis, systemic-onset juvenile rheumatoid arthritis, juvenile dermatomyositis…
- Trial name
- NCT00277251
- Testing
- Alendronate
- Volunteers
- 20 people
- Sponsor
- Boston Children's Hospital
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Amyotrophic Lateral Sclerosis, Muscular Dystrophy
Innovative Ultrasound Technology in Neuromuscular Disease
This study is utilizing ultrasound measurement to measure neuromuscular disease status in adult patients. The hypothesis is the by quantifying ultrasound data, it is possible that ultrasound can be utilized as a tool to determine…
- Conditions
- Amyotrophic Lateral Sclerosis, Muscular Dystrophy, Radiculopathy, Myopathy
- Trial name
- AQUIRe (NCT02104921)
- Where
- United States
- Volunteers
- 223 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
MELAS Syndrome
Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)
This pilot clinical study evaluated the safety and metabolic responses to a licensed inactivated seasonal influenza vaccine (TIV) in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS)…
- Trial name
- NCT01831934
- Testing
- Fluzone®
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Stanford University
Osteoporosis, Duchenne Muscular Dystrophy
Effects of Low-level Mechanical Vibration on Bone Density in Ambulant Children Affected by Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a X-linked recessive disorder due to a mutation of the dystrophin gene (Xp21). Dystrophin is a sarcolemmal protein of skeletal and cardiac muscle, and its absence causes progressive muscle…
- Trial name
- NCT05281120
- Testing
- Low-level mechanical vibrations WITH vertical sinusoidal acceleration, Low-level mechanical vibrations WITHOUT vertical sinusoidal acceleration
- Volunteers
- 20 people
- Sponsor
- Istituto Auxologico Italiano
Fibromyalgia, D Vitamin Deficiency
Valuation of Efficacy and Safety of Vitamin D3 Use in 80 Women Diagnosed With Fibromyalgia. Using FIQ Score and VAS.
Fibromyalgia is a disease that significantly decreases the quality of life of people who suffer from it, has great repercussions at the socio-economic level due to the incapacity it produces.
- Trial name
- NCT03369379
- Testing
- D3 Vitamin
- Where
- Mexico
- Volunteers
- 80 people
- Sponsor
- Universidad Autonoma de Nuevo Leon
Musculoskeletal Pain, Osteoarthritis
Integrated Healthy Lifestyle and Pain Care for People With Musculoskeletal Conditions Living in Rural Areas.
This study aims to compare the effects of an in-person physiotherapist-led lifestyle-focused pain care intervention with a virtual multidisciplinary lifestyle-focused pain care intervention on pain impact in people with…
- Conditions
- Musculoskeletal Pain, Osteoarthritis, Low Back Pain
- Trial name
- HeLP-R (NCT07173335)
- Testing
- In-person physiotherapist led integrated healthy lifestyle and pain care, Virtual multidisciplinary integrated healthy lifestyle and pain care
- Where
- 3 sites in Australia
- Volunteers
- 354 people
- Sponsor
- University of Sydney
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
Primary Mitochondrial Disease
Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
This randomized, double-blind, placebo-controlled, crossover study screened 32 subjects with primary mitochondrial myopathy (PMM) to evaluate the safety, tolerability, pharmacokinetics (PK), and efficacy of subcutaneous…
- Trial name
- MMPOWER-2 (NCT02805790)
- Testing
- Elamipretide
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Stealth BioTherapeutics Inc.
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease
Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder…
- Conditions
- Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease, Muscular Dystrophy, Spinal Muscular Atrophy With Respiratory Distress 1
- Trial name
- NCT02532244
- Testing
- sample collection
- Where
- 3 sites in United States
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Mitochondrial Diseases, Mitochondrial Encephalomyopathy
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy…
- Conditions
- Mitochondrial Diseases, Mitochondrial Encephalomyopathy, Mitochondrial Encephalopathy, Mitochondrial DNA Depletion
- Trial name
- dC-dT-MDS (NCT04802707)
- Testing
- deoxycytidine and deoxythymidine
- Where
- Canada
- Volunteers
- 200 people
- Sponsor
- Kenneth Myers, MD
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
Statin Adverse Reaction, Statin-induced Myopathy
Metabolic and Mitochondrial Changes in Statin-Induced Myopathy
The goal of this observational study is to learn whether statin-related muscle symptoms are linked to problems in fat metabolism in muscle cells, specifically involving acylcarnitines, in adults taking or not taking statins.
- Trial name
- NCT07511686
- Testing
- Blood sampling and laboratory assessment, Muscle biopsy
- Where
- Latvia
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Riga Stradins University
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
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
Hypertension, Depression
Patient-Centred Innovations for Persons With Multimorbidity - Ontario
The aim of Patient-Centred Innovations for Persons With Multimorbidity (PACE in MM) study is to reorient the health care system from a single disease focus to a multimorbidity focus; centre on not only disease but also the…
- Conditions
- Hypertension, Depression, Anxiety, Musculoskeletal Pain
- Trial name
- PACEinMM-ON (NCT02742597)
- Testing
- TIP / IMPACT Plus Care Coordination
- Where
- 9 sites in Canada
- Volunteers
- 175 people
- Sponsor
- London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's