Clinical trials: Mitochondrial
Cytomegalovirus Infections, HIV Infections
Preventing Cytomegalovirus (CMV) Organ Damage With Valganciclovir in People With HIV
Cytomegalovirus (CMV) infection is a common opportunistic infection (OI) in HIV patients. The purpose of this study is to find out whether valganciclovir, an antiviral approved by the FDA for the treatment of CMV in the eye, is…
- Trial name
- NCT00006145
- Testing
- Valganciclovir
- Where
- 57 sites in United States, Puerto Rico
- Volunteers
- 350 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake.
- Trial name
- A-TC7 (NCT04513002)
- Testing
- Triheptanoin
- Where
- Australia
- Volunteers
- 30 people
- Sponsor
- The University of Queensland
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
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.
Friedreich Ataxia, Cardiomyopathies
Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
The purpose of this study is to test the safety and preliminary efficacy of AAVrh.10hFXN to treat the cardiomyopathy associated with Friedreich's ataxia (FA).
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Cardiac Hypertrophy, Myocardial Fibrosis
- Trial name
- NCT05302271
- Testing
- AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN, Prednisone
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Weill Medical College of Cornell University
Mitochondrial Cytopathies Disorders
Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy
The aim of the present study is to compare Resting Energy Expenditure (REE) between normal fat diet (NFD) as a control vs high fat diet (HFD) as a treatment in Mitochondrial cytopathies disorders ( MID's ) patients.
- Trial name
- MITOX (NCT02385565)
- Testing
- high fat diet, normal fat diet
- Where
- 2 sites in France
- Volunteers
- 36 people
- Sponsor
- University Hospital, Lille
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
Primary Mitochondrial Disease
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Primary Mitochondrial Disease (PMD) is a genetic neurometabolic disorder, leading to central nervous system degeneration and increased risk of early mortality.
- Trial name
- NCT06890520
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
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
Leber Hereditary Optic Disease
Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients
The goal of this Clinical trial is to assess the safety and efficacy of GS010 at two dose levels on visual acuity and retinal mitochondrial activity in patients affected with ND4 Leber Hereditary Optic Neuropathy (LHON)
- Trial name
- REVISE (NCT07303296)
- Testing
- GS010 High dose, GS010 Low dose
- Where
- France
- Volunteers
- 14 people
- Sponsor
- GenSight Biologics
Inborn Errors of Metabolism
Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids
Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies: limitation of lipid intake in the diet; supplementation of the diet with medium-chain triglycerides (MCT) for patients…
- Trial name
- NCT00328159
- Testing
- Oil special 107 and MYGLIOL 810
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Friedreich's Ataxia
Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study
The purpose of this phase 3 multi-center, open-label extension study is to evaluate the long-term safety of ACTIMMUNE® (interferon-γ 1b) in participants with Friedreich's Ataxia.
- Trial name
- STEADFAST (NCT02593773)
- Testing
- Interferon γ-1b
- Where
- 4 sites in United States
- Volunteers
- 86 people
- Sponsor
- Amgen
Lymphoblastic Leukemia in Children
Association Between Mitochondrial DNA Content and Risk of Acute Leukemia
Compelling epidemiological evidence indicates that alterations of mitochondrial DNA, including mutations and abnormal content of mitochondrial DNA (mtDNA), are associated with the initiation and development of acute lymphoblastic…
- Trial name
- NCT03595969
- Testing
- Relative copy number of mitochondrial DNA
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Air Force Military Medical University, China
Thymidine Kinase 2 Deficiency
A Study of the Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency (Treatment naïve)
This is a Phase 3b, prospective, single-arm, multicenter, open-label treatment study of the efficacy and safety of MT1621 in pediatric and adolescent patients with thymidine kinase 2 deficiency (TK2d).
- Trial name
- NCT04581733
- Testing
- MT1621
- Sponsor
- Zogenix MDS, Inc.
Friedreich's Ataxia
GV101 for Friedreich's Ataxia (FA) Treatment
This is a dose-ranging, randomized, double-blind, placebo-controlled 12-week Phase 2a trial with an up to two week loading dose period.
- Trial name
- NCT07870590
- Testing
- GV101
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Graviton Bioscience Corporation
Mitochondrial Diseases, Developmental Delay Disorder
Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurodevelopmental Disorders
Background: Small-Fiber-Neuropathy describes the degeneration of mildly or unmyelinated nerve fibers and causes neuropathic pain and autonomic dysfunction.
- Conditions
- Mitochondrial Diseases, Developmental Delay Disorder, Small Fiber Neuropathy, Cerebral Palsy
- Trial name
- SFN_children (NCT05645874)
- Testing
- Skin biopsy
- Where
- Germany
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf
Mitochondrial DNA Depletion Syndrome 2 Myopathic Type, Thymidine Kinase 2 Deficiency
Treatment of TK2 Deficiency With Thymidine and Deoxycytidine
Patients with confirmed mitochondrial DNA depletion syndrome 2 (thymidine kinase 2 [TK2] deficiency) have reduced levels of nucleotides (deoxythymidine monophosphate and deoxycytidine monophosphate) for mitochondrial DNA…
- Trial name
- NCT03639701
- Testing
- Thymidine
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Columbia University
Mitochondrial Myopathy
Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy
Phase 1/2, multi-center, randomized, double-blind, multiple ascending dose, placebo-controlled study that enrolled 36 subjects with mitochondrial myopathy associated with genetically confirmed mitochondrial disease to evaluate…
- Trial name
- MMPOWER (NCT02367014)
- Testing
- elamipretide (low dose), elamipretide (intermediate dose), elamipretide (high dose)
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- Stealth BioTherapeutics Inc.
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland