Clinical trials: Mitochondrial Metabolism
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 Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENEREXT Study
This is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202.
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke Like Episodes (MELAS)
- Trial name
- NCT04604548
- Testing
- Oral administration of 100 mg KH176 twice daily
- Where
- 4 sites in Denmark, Germany and 2 more
- Volunteers
- 11 people
- Sponsor
- Khondrion BV
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
Mitochondrial Function, Glucose Intolerance
Dose-response Relationship Between Exercise and Health Outcomes
In this study 11 healthy volunteers will perform high intensity exercise training during 4 weeks. The exercise frequency will increase progressively during the first three weeks, followed by a fourth week with lower exercise…
- Trial name
- NCT04753021
- Testing
- Exercise
- Where
- Sweden
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- The Swedish School of Sport and Health Sciences
Mitochondrial Disease
Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial…
- Trial name
- NCT02154711
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Sepsis, Critical Illness
Metabolic and Functional Study of γδ T Cells in Critically Ill Patients
This prospective observational cohort study investigates the subset-specific metabolic adaptation and functional remodeling of cytotoxic γδ T cells in critically ill patients with and without sepsis.
- Conditions
- Sepsis, Critical Illness, Immunosuppression, MODS
- Trial name
- NCT07680816
- Where
- China
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
Thymidine Kinase 2 Deficiency
An Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With TK2 Deficiency
This is a Phase 2 prospective open-label treatment study of the safety and efficacy of doxecitine and doxribtimine in study participants with thymidine kinase 2 (TK2) deficiency who participated in the retrospective study…
- Trial name
- Continuation (NCT03845712)
- Testing
- doxecitine and doxribtimine
- Where
- 8 sites in United States, Israel and 1 more
- Volunteers
- 47 people
- Sponsor
- UCB BIOSCIENCES, Inc.
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
Friedreich Ataxia
Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
The PROFA study is an international, multi-centric observational and validation study to assess the patient-reported, psychosocial and economic outcomes of patients with Friedreich Ataxia (FA).
- Trial name
- PROFA (NCT05943002)
- Where
- 6 sites in Austria, France and 1 more
- Volunteers
- 200 people
- Sponsor
- German Center for Neurodegenerative Diseases (DZNE)
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENERGYC Study
This a randomized placebo controlled, double-blind phase II study to explore the pharmacokinetics, safety and efficacy of sonlicromanol in children (from birth to 17 years) with genetically confirmed mitochondrial disease of…
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, MELAS, Subacute Necrotizing Encephalomyelopathy
- Trial name
- NCT04846036
- Testing
- Sonlicromanol
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Khondrion BV
Cytomegalovirus Infections, HIV Infections
A Randomized, Double-Blind Study of the Efficacy and Safety of Oral Ganciclovir for the Prevention of CMV Disease in People Infected With the Human Immunodeficiency Virus
To evaluate the efficacy of oral ganciclovir in preventing progression to cytomegalovirus (CMV) disease (e.g., CMV retinitis, gastrointestinal CMV disease) in CMV-infected people with HIV infection and CD4 lymphocyte counts <=…
- Trial name
- NCT00002095
- Testing
- Ganciclovir
- Where
- 19 sites in United States
- Volunteers
- 700 people
- Sponsor
- Hoffmann-La Roche
Mitochondrial Disease
Vatiquinone Expanded Access Protocol
The purpose of this study is to provide participants who successfully completed the study titled "An Open-label, Safety Study for Previously Treated Vatiquinone (PTC743) Subjects With Inherited Mitochondrial Disease" with liquid…
- Trial name
- EAP (NCT07159139)
- Testing
- Vatiquinone
- Sponsor
- Medical University of South Carolina
Obesity
Metabolic Impact on the Mitochondria-gut Microbiota Axis of Failure to Follow Restrictive Dietary Interventions in Subjects Living With Obesity
Nutritional interventions with dietary restrictions have become highly popular for promoting weight and body fat loss; In addition, they are largely associated with the improvement and preservation of mitochondrial function as…
- Trial name
- NCT06782009
- Testing
- Calorie restriction, Intermittent fasting 16/8, Ketogenic diet
- Where
- 2 sites in Mexico
- Volunteers
- 84 people
- Sponsor
- Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran
Mitochondrial Diseases, Obesity
Muscle OXPHOS and Nutrient Homeostasis
Investigators are recruiting adults (men and women, ages 18 to 65 years, inclusive) with a confirmed genetic diagnosis of mitochondrial disease.
- Trial name
- NCT02920671
- Testing
- Tracer-enhanced oral glucose tolerance test (OGTT*), Muscle MRI, Dual energy x-ray absorptiometry (DXA)
- Where
- 2 sites in United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Nonalcoholic Fatty Liver, Nonalcoholic Steatohepatitis
The Liver Health Study for Patients with NAFLD
The study will investigate whether the level of fat stored in the liver is related to the liver's ability to burn fat.
- Conditions
- Nonalcoholic Fatty Liver, Nonalcoholic Steatohepatitis, Obesity
- Trial name
- NCT03151798
- Testing
- Phase II: Lifestyle treatment, Phase II: Control treatment, Phase I: Observational studies
- Where
- United States
- Volunteers
- 336 people
- Sponsor
- University of Missouri-Columbia
Leber's Hereditary Optic Neuropathy (LHON)
Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy (LHON) Through Qualitative and Quantitative Data Collection
Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder characterized by optic nerve atrophy due to the degeneration of retinal ganglion cells, which leads to acute visual loss.
- Trial name
- NCT05555784
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Argo Sante
Mitochondrial Biogenesis, Inflammation
EFFECTS OF PYRROLOQUINOLINE QUINONE (PQQ) SUPPLEMENTATION ON NON-ENDURANCE TRAINED ATHLETES
The aim of this study was to investigate the effects of six weeks of PQQ supplementation in non-endurance-trained individuals on: 1. physiological and metabolic response during a FATmax-VO₂peak exercise test 2.
- Trial name
- NCT07148726
- Testing
- Pyrrole Quinoline Quinone (PQQ)
- Where
- Italy
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of Padova
Friedreich's Ataxia
Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)
This is a Phase IIIb Double-Blind, Randomised, Placebo-Controlled Study. The aim is to further investigate the effects of idebenone in patients with Friedreich's ataxia.
- Trial name
- PROTI (NCT01303406)
- Testing
- Idebenone
- Where
- 6 sites in Austria, Germany and 2 more
- Volunteers
- 29 people
- Sponsor
- Santhera Pharmaceuticals
Friedreich Ataxia
Idebenone to Treat Friedreich's Ataxia
This study will determine whether a drug called idebenone is safe and effective in reducing the level of oxidants that are believed to damage the nervous system and hearts in patients with Friedreich's ataxia.
- Trial name
- NCT00229632
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Leber Hereditary Optic Neuropathy
RESCUE and REVERSE Long-term Follow-up
The goal of this clinical trial is to assess the long-term safety and efficacy of GS010, a gene therapy, and assess the quality of life in subjects with LHON due to the G11778A ND4 mitochondrial mutation and who were treated in…
- Trial name
- RESTORE (NCT03406104)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 62 people
- Sponsor
- GenSight Biologics