Clinical trials: Mitochondrial Disorder, Respiratory Chain
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
Mitochondrial Diseases
EPI-743 for Mitochondrial Respiratory Chain Diseases
This study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.
- Trial name
- NCT01370447
- Testing
- EPI-743
- Where
- 16 sites in United States
- Sponsor
- PTC Therapeutics
Mitochondrial Diseases
Clinical Study of Hydroxytyrosol (HT) in Mitochondrial Diseases
Mitochondrial diseases (MDs) are the commonest group of inborn errors resulting from primary dysfunction of mitochondrial respiratory chain (MRC).
- Trial name
- NCT04543968
- Testing
- hydroxytyrosol (HT) intake, hydroxytyrosol (HT) intake and withdraw
- Where
- Hong Kong
- Volunteers
- 10 people
- Sponsor
- Hong Kong Children's Hospital
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
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
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
Mitochondrial Diseases
Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
To show that oral CoQ10 is a safe and effective treatment for children with inborn errors of mitochondrial energy metabolism due to defects in specific respiratory chain (RC) complexes or mitochondrial DNA (mtDNA) mutations, and…
- Trial name
- NCT00432744
- Testing
- CoenzymeQ10
- Where
- 3 sites in United States, Canada
- Volunteers
- 24 people
- Sponsor
- University of Florida
Leigh Syndrome
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
- Trial name
- NCT01721733
- Testing
- EPI-743 15 mg/kg, EPI-743 5 mg/kg
- Where
- 4 sites in United States
- Volunteers
- 35 people
- Sponsor
- PTC Therapeutics
Acute Liver Failure, Mitochondrial Diseases
Longitudinal Study of Mitochondrial Hepatopathies
The specific aims of this study are (1) to determine the clinical phenotypes and natural history of hepatic RC and FAO disorders, (2) to determine the correlation between genotype and phenotype, (3) to determine if circulating…
- Conditions
- Acute Liver Failure, Mitochondrial Diseases, End Stage Liver Disease, Respiratory Chain Deficiencies, Mitochondrial
- Trial name
- MITOHEP (NCT01148550)
- Where
- 16 sites in United States, Canada
- Volunteers
- 90 people
- Sponsor
- Arbor Research Collaborative for Health
Leigh Syndrome
Sirolimus for Leigh Syndrome
The purpose of this study is to evaluate the safety and efficacy of the drug Sirolimus in participants with Leigh syndrome.
- Trial name
- NCT06843811
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Matthew Demczko