Clinical trials: Metabolic Myopathies
Muscular Dystrophy, Duchenne
Effect of EPA and DHA in the Inflammation and Metabolic Disorders in DMD/DMB Patients
The purpose of this study is to evaluate the effect of docosahexaenoic fatty acid and eicosapentaenoic fatty acid supplementation for six months on the inflammation state as well as the process of muscular regeneration and the…
- Trial name
- NCT01826422
- Testing
- EPA and DHA
- Where
- Mexico
- Volunteers
- 40 people
- Sponsor
- Coordinación de Investigación en Salud, Mexico
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
Myopathy, Neuropathy
Identification of Tongue Involvement in Late-Onset Pompe Disease
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or…
- Conditions
- Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
- Trial name
- NCT02765828
- Testing
- Observational study
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Duke University
Spina Bifida, Neuromuscular Diseases
Metformin in Children With Motor Deficit
Obesity with insulin resistance in the paediatric population provides an increasing challenge. Children with neurological or neuromuscular diseases are even more prone to obesity: their locomotor impairment leads to an…
- Trial name
- NCT00720161
- Testing
- Metformin
- Where
- Belgium
- Volunteers
- 42 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
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
Osteoporosis
Calcium Metabolism in Mexican American Adolescents
The purpose of this study is to identify calcium metabolism characteristics in Mexican American adolescents. The investigators predict that calcium requirements to maximize bone health in this population will be lower than for…
- Trial name
- NCT01277185
- Testing
- Low Calcium Diet, High Calcium Diet
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Purdue University
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
Duchenne Muscular Dystrophy
Wearable Technology to Evaluate Hyperglycemia and HRV in DMD - Longitudinal Aim
Duchenne Muscular Dystrophy (DMD) is an X-linked disorder that causes muscle wasting, cardiopulmonary failure, and premature death.
- Trial name
- NCT06093100
- Testing
- wearable technology
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Vanderbilt University Medical Center
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
Autosomal Dominant Hypocalcemia (ADH)
Efficacy and Safety of Encaleret Compared to Standard of Care in Participants With ADH1
The primary purpose of the study is to understand the effectiveness, safety, and tolerability of encaleret when compared to standard of care (SoC) treatment in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1).
- Trial name
- CALIBRATE (NCT05680818)
- Testing
- Encaleret, Standard of Care
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 67 people
- Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Glycogen Storage Disease, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Mitochondrial Disorders, Mitochondrial Disease
Tissue Sample Study for Mitochondrial Disorders
The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA).
- Conditions
- Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer
- Trial name
- NCT01803906
- Where
- United States
- Volunteers
- 6,900 people, healthy volunteers welcome
- Sponsor
- Columbia University
MItochondrial Myopathies
Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
Mitochondrial cytopathies are a heterogeneous group of rare inherited diseases characterized by primary mitochondrial dysfunction caused by a pathogenic mutation located either in nuclear DNA or mitochondrial DNA.
- Trial name
- MITOMYO (NCT07920562)
- Testing
- Analysis of signaling pathway : AMPK
- Where
- France
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Duchenne Muscular Dystrophy, Pompe Disease (Late-onset)
Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease
This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study.
- Trial name
- VICTORIA (NCT04120168)
- Testing
- Laboratory Tests
- Where
- 51 sites in Turkey (Türkiye)
- Volunteers
- 590 people
- Sponsor
- Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
A Study to Assess TTI-0102 vs Placebo in MELAS Patients
This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of…
- Trial name
- NCT06644534
- Testing
- TTI-0102
- Where
- 2 sites in France, Netherlands
- Volunteers
- 9 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Primary Mitochondrial Disease
Natural History Study of Mitochondrial Myopathy
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM).
- Trial name
- NCT05250375
- Where
- United States
- Volunteers
- 1,300 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
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
Duchenne Muscular Dystrophy, Amyotrophic Lateral Sclerosis
Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
The hypothesis is that a mechanical insufflation-exsufflation (MI-E) is associated with a decrease in the number of intubations and more rapid clinical improvement in children and adults with neuromuscular disease who are…
- Conditions
- Duchenne Muscular Dystrophy, Amyotrophic Lateral Sclerosis, Neuromuscular Diseases
- Trial name
- Nemucough (NCT00839033)
- Testing
- mechanical insufflation - exsufflation, Standard respiratory physiotherapy
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris