Clinical trials: Metabolic Myopathies
Progeria
Clinical Studies of Progeria
This study will examine children with Hutchinson-Gilford Progeria syndrome, a genetic disease that causes many changes to the body over time, including heart disease, bone changes, hair loss, and joint and skin changes.
- Trial name
- NCT00094393
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome
The Precision Mito- Mito Map COMPASS Study
Mito Map is a research tool that produces an Energy Score from information provided by a participant. This remote observational study has an initial enrollment target of 400 adults across seven prespecified cohorts: healthy…
- Conditions
- Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome, Post-COVID-19 Condition, Postural Orthostatic Tachycardia Syndrome
- Trial name
- COMPASS (NCT07856121)
- Testing
- Mito Map Energy Score and Home Functional Assessments
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- AI Agent Vault, Inc. d/b/a Precision Mito
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
MELAS Syndrome
L-Citrulline Dose Finding Safety Study in MELAS
The main purpose of this study is to determine the safest maximum dose of an amino acid, citrulline, which will be used as potential treatment for adult patients with a disorder of energy metabolism called Mitochondrial…
- Trial name
- NCT03952234
- Testing
- L-Citrulline
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Baylor College of Medicine
Fibromyalgia (FM), Vitamin B 12 Deficiency
Pre- and Post-Treatment Investigation of B12 and Folic Acid (Folate) Levels in Patients Receiving Antiepileptic (Anticonvulsant) Treatment for Fibromyalgia: Retrospective Study
Fibromyalgia is a rheumatological disorder characterised by chronic widespread body pain, second most common after osteoarthritis. The overall prevalence is 2-8% and it is more common in women.
- Conditions
- Fibromyalgia (FM), Vitamin B 12 Deficiency, Folic Acid Deficiency
- Trial name
- NCT07013305
- Where
- Turkey (Türkiye)
- Volunteers
- 104 people
- Sponsor
- Gaziosmanpasa Research and Education Hospital
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
Sleep Disturbance, Fatigue Syndrome, Chronic
Bao Yuan Tang Extract and Galactooligosaccharides for Sleep Regulation
Certain classical formulas in traditional Chinese medicine and dietary prebiotics have demonstrated beneficial effects on various aspects of suboptimal health status in previous studies.
- Conditions
- Sleep Disturbance, Fatigue Syndrome, Chronic, Endocrine Disorder, Glucose Metabolism Disorder
- Trial name
- NCT07774897
- Testing
- Combination product (Bao Yuan Tang full-component extract 2.0g and galactooligosaccharides 2.0g), Galactooligosaccharides 2.0g
- Where
- 6 sites in China
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Hepatopancreatobiliary Surgery Institute of Gansu Province
Frontotemporal Dementia, Frontotemporal Degeneration
Voices Of Individuals: Challenges and Experiences Of bvFTD
The VOICE Of bvFTD study is a telephone interview research study about life with or at risk for behavioral variant frontotemporal dementia (bvFTD).
- Conditions
- Frontotemporal Dementia, Frontotemporal Degeneration, Frontotemporal Dementia, Behavioral Variant, FTD
- Trial name
- NCT04060082
- Testing
- Telephone Interview
- Where
- 3 sites in United States
- Volunteers
- 26 people
- Sponsor
- University of Pennsylvania
Amyotrophic Lateral Sclerosis
Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS
Muscular cramps are a common and uncomfortable symptom of amyotrophic lateral sclerosis (ALS). This clinical trial will compare the response of high dose vitamin E supplementation to placebo for treatment of muscular cramps in…
- Trial name
- NCT00372879
- Testing
- Vitamin E
- Where
- Canada
- Volunteers
- 32 people
- Sponsor
- London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Type 1 Diabetes
The Summer Camp Study: Blood Glucose Control With a Bi-Hormonal Bionic Endocrine Pancreas
This study will test the hypothesis that a wearable automated bionic pancreas system that automatically delivers both insulin and glucagon can improved glycemic control vs.
- Trial name
- NCT01833988
- Testing
- Bi-hormonal Bionic Pancreas, Usual Care
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Massachusetts General Hospital
Pompe Disease (Late-onset), Inclusion Body Myositis
Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease
The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Inclusion Body Myositis, Spinal Muscular Atrophy Type 3, FSHD
- Trial name
- NCT05272969
- Testing
- Beck depression inventory fast screen (Questionnaire), Brief Pain Inventory (BPI) (Questionnaire), German Pain Inventory (Questionnaire)
- Where
- Germany
- Volunteers
- 95 people
- Sponsor
- LMU Klinikum
Autosomal Dominant Hypocalcemia
ADH1 and ADH2 Disease Monitoring Study (DMS)
A global, multi-center, Disease Monitoring Study (DMS) in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designed to characterize ADH1 and ADH2 disease…
- Trial name
- CLARIFY (NCT05227287)
- Where
- 27 sites in United States, Australia and 11 more
- Volunteers
- 95 people
- Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
Hypercholesterolemia, Aches
Effectiveness of Creatine in Preventing Muscle Aching From Cholesterol-Lowering Statin Drugs
The purpose of this study is to determine of creatine will prevent or treat the muscle toxicity side effect of statin drug therapy, whose symptoms are aching, cramping, and weakness.
- Conditions
- Hypercholesterolemia, Aches, Cramps, Weakness
- Trial name
- NCT00797407
- Testing
- Creatine
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- The Cleveland Clinic
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
Chronic Pain, Fibromyalgia
Duloxetine on Bone Metabolism
The aim of the study was to determine the effect of duloxetine as monotherapy on biochemical markers and bone mineral density.
- Trial name
- NCT05550506
- Testing
- Duloxetine
- Where
- Turkey (Türkiye)
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Cukurova University
Muscular Dystrophies
The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies
The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue.
- Trial name
- NCT00674843
- Testing
- Far Infrared Radiation
- Where
- Canada
- Volunteers
- 4 people
- Sponsor
- GAAD Medical Research Institute Inc.
Tarui Disease, Debrancher Deficiency
The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses
The aim of this study is to investigate the effect of 14 days of treatment with the dietary oil-supplement Triheptanoin on fat metabolism and exercise tolerance in patients with Phosphofructokinase deficiency, Debrancher…
- Conditions
- Tarui Disease, Debrancher Deficiency, GYG1 DEFICIENCY
- Trial name
- NCT03642860
- Testing
- Triheptanoin
- Where
- Denmark
- Volunteers
- 3 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms.
- Trial name
- NCT01532791
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial Myopathies, Mitochondrial Pathology
Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
SPIMD-301 is a 48-week, randomized, double-blind, parallel-group, placebo-controlled trial to assess efficacy and safety of single daily subcutaneous (SC) administration of elamipretide as a treatment for subjects with primary…
- Conditions
- Mitochondrial Myopathies, Mitochondrial Pathology, Mitochondrial DNA Mutation, Mitochondrial Diseases
- Trial name
- NuPower (NCT05162768)
- Testing
- Elamipretide
- Where
- 32 sites in United States, Australia and 8 more
- Volunteers
- 102 people
- Sponsor
- Stealth BioTherapeutics Inc.
Neurodevelopmental Disorders, Autism Spectrum Disorder
Patterns of Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.
- Conditions
- Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome
- Trial name
- NCT06213090
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Richard Frye