Clinical trials: Mitochondrial Disorder
Mitochondrial Diseases
Anesthesia in Patients With Mitochondrial Disease
This pilot study is a prospective, randomized clinical trial to evaluate the effect of anesthesia in the mitochondrial dysfunction patient.
- Trial name
- NCT02053766
- Testing
- Sevoflurane, Dexmedetomidine, Propofol
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- The University of Texas Health Science Center, Houston
Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN)
TIRCON International NBIA Registry
TIRCON-reg aims to continue the provision of a global registry and natural history study for NBIA disorders harmonize and cover existing national and single site registries enable participation of countries and single sites that…
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN), Beta-Propeller Protein-Associated Neurodegeneration (BPAN), Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)
- Trial name
- TIRCON (NCT05522374)
- Where
- 9 sites in Canada, Czechia and 6 more
- Volunteers
- 2,000 people
- Sponsor
- LMU Klinikum
Pompe Disease, Muscle Loss
Nutritional Therapy in Late-onset Pompe Disease
RATIONALE: Pompe disease (PD) is a recessive genetic disorder wherein the body cannot break down glycogen due to a mutation in the acid alpha glucosidase (GAA) gene, which encodes for acid alpha-glucosidase.
- Conditions
- Pompe Disease, Muscle Loss, Obesity, Nutrition Poor
- Trial name
- PDT-MIS (NCT06130228)
- Testing
- Multi-ingredient supplement (PDT-MIS)
- Volunteers
- 28 people
- Sponsor
- McMaster University
Cytomegalovirus Infection
CMV Antiviral Prevention Strategies in D+R-Liver Transplants ("CAPSIL")
This is a trial of preemptive therapy vs. prophylaxis for prevention of Cytomegalovirus (CMV) disease in R-D+ liver transplant patients.
- Trial name
- NCT01552369
- Testing
- Valganciclovir
- Where
- 6 sites in United States
- Volunteers
- 205 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Diabetes, Obese
PGC-1 and Mitochondrial Dysfunction in Diabetes
The purpose of this study is determine if you have too much fat in your body that it will decrease the conversion of food energy into energy that your body can use.
- Trial name
- NCT01724515
- Testing
- Lipid infusion and muscle biopsies
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Barth Syndrome
Heart and Muscle Metabolism in Barth Syndrome
Barth syndrome (BTHS) is an X-linked disorder caused by abnormal cardiolipin metabolism and is characterized by skeletal and cardiomyopathy and high mortality rates.
- Trial name
- NCT01625663
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Duke University
Mitochondrial Diseases, Barth Syndrome
An Intermediate Size Expanded Access Protocol of Elamipretide
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program.
- Trial name
- NCT04689360
- Testing
- elamipretide
- Sponsor
- Stealth BioTherapeutics Inc.
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
Leigh Syndrome
A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
The goal of this clinical trial is to investigate oral TTI-0102 to evaluate its pharmacokinetics, safety, and preliminary efficacy in patients with Leigh syndrome spectrum, in three sequences.
- Trial name
- NCT06990984
- Testing
- TTI-0102: cysteamine-pantetheine disulfide, D-Mannitol
- Volunteers
- 18 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Becker Muscular Dystrophy
(-)- Epicatechin Becker Muscular Dystrophy
This is a 48-week open-label extension of our initial proof-of-concept study (UCD0113) in patients with Becker muscular dystrophy who participated in the earlier trial.
- Trial name
- NCT03236662
- Testing
- (-)-Epicatechin
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Craig McDonald, MD
Mitochondrial Energetics, Dietary Nitrate
Effect of Dietary Nitrate on Immobilization-induced Changes in Skeletal Muscle in Young Healthy Men
Diminished use of skeletal muscle, such as occurs with many chronic diseases (e.g., heart failure or cancer cachexia), denervation, bedrest, immobilization (e.g., limb casting or bracing), etc., is a common clinical condition…
- Conditions
- Mitochondrial Energetics, Dietary Nitrate, Disuse Atrophy (Muscle) of Lower Leg
- Trial name
- NCT07161973
- Testing
- Beetroot Juice - Active
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Indiana University
Allogeneic Stem Cell Transplantation
Study Comparing Valganciclovir Versus Ganciclovir in Patients Following Allogeneic Stem Cell Transplantation
The objective of this study is to assess the efficacy and safety of oral valganciclovir versus intravenous ganciclovir in patients following allogenic stem cell transplantation.
- Trial name
- CONVINCE (NCT01185223)
- Testing
- Valganciclovir, Ganciclovir
- Where
- 17 sites in Austria, Germany and 1 more
- Volunteers
- 212 people
- Sponsor
- Pierrel Research Europe GmbH
Epilepsy
The Effect of Anti-epileptic Drugs on Mitochondrial Activity
This study is based on the hypothesis that antiepileptic drugs (other than Valproic acid) have an effect on the mitochondrial oxidative phosphorylation.
- Trial name
- NCT01218321
- Testing
- antiepileptic treatment
- Where
- Israel
- Volunteers
- 60 people
- Sponsor
- Hadassah Medical Organization
Bronchiolitis Acute, Wheezing
The Role of Vitamin D and Vitamin D Receptor in Recurrent Wheezing in Children With Bronchiolitis: Immunological Association With T-lymphocyte Mitochondrial Mass
A prospective study will be conducted involving children under 2 years of age hospitalized for bronchiolitis during the period 2025-2026.
- Conditions
- Bronchiolitis Acute, Wheezing, RSV
- Trial name
- NCT07700134
- Testing
- No Intervention: Observational Cohort
- Where
- Greece
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- National and Kapodistrian University of Athens
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.
Infertility, Female, Mitochondrial
Automitochondrial Transplantation Improves Live Birth in Elderly Patients With Low Prognosis After Repeated IVF Failure
The goal to this clinical trial is to study the effectiveness and safety of automitochondrial transplantation of urine derived stem cells(USCs) in in elderly patients with low prognosis after repeated IVF failure.
- Conditions
- Infertility, Female, Mitochondrial, Elderly, Assisted Reproductive Technique
- Trial name
- ACTILB (NCT06020742)
- Testing
- Autologous USC mitochondrial oocyte transplantation
- Where
- China
- Volunteers
- 40 people
- Sponsor
- Peking University People's Hospital
Mitochondrial Disorders
Mitochondrial Disease-associated ImmunoDeficiencies
The study aims at characterizing the immune dysfunctions in patients with mitochondrial diseases. This has prognostic and diagnostic interest as well as potential for the discovery of new therapeutic strategies to alleviate…
- Trial name
- MitoID (NCT06213103)
- Testing
- Patient cohort, Control cohort
- Where
- 2 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Leber Hereditary Optic Neuropathy
REALITY LHON Registry
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported…
- Trial name
- REALITY (NCT03295071)
- Testing
- Patient-reported outcomes (PROs)
- Where
- 11 sites in United States, France and 3 more
- Volunteers
- 44 people
- Sponsor
- GenSight Biologics
Mitochondrial Myopathies, Mitochondrial Diseases
Mitochondrial Dysfunctions Driving Insulin Resistance
The overarching aim of this observational study is to characterize muscle mitochondrial defects in individuals harboring pathogenic mitochondrial DNA (mtDNA) mutations associated with an insulin-resistant phenotype.
- Conditions
- Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders
- Trial name
- MITO-DYS-IR (NCT06080581)
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet