Clinical trials: Mitochondrial Disorder
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
HIV
Effect of Gender and HIV Infection on Zidovudine and Lamivudine Pharmacokinetics
This study evaluated the blood and blood cell concentrations of zidovudine and lamivudine in men versus women and in those with versus without HIV infection.
- Trial name
- NCT01386970
- Testing
- zidovudine 300mg and lamivudine 150mg as Combivir
- Where
- United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Healthy
Effects of an Antioxidant Supplement on Blood Vessel Health
Cardiovascular disease (CVD) is a leading cause of morbidity and mortality worldwide, and the non-Hispanic Black (NHB) population is disproportionately affected.
- Trial name
- NCT06424756
- Testing
- MitoQ, MitoTempo, Tempol
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Georgia
Chronic Fatigue Syndrome
Therapy for Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder
The purpose of this study is to determine whether therapy that has been shown to be beneficial for mitochondrial diseases is also beneficial for Chronic Fatigue Syndrome (CFS) patients.
- Trial name
- NCT01872351
- Testing
- Nutraceuticals
- Where
- United States
- Sponsor
- Columbia University
Optic Atrophy, Non-arteritic Anterior Ischemic Optic Neuropathy
Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
This is an open-label, dose escalation, safety, tolerability and pharmacokinetic study, where active study drug (QPI-1007) will be given to all patients who participate.
- Trial name
- NCT01064505
- Testing
- QPI-1007 at various doses
- Where
- 28 sites in United States, Israel
- Volunteers
- 48 people
- Sponsor
- Quark Pharmaceuticals
Autosomal Dominant Polycystic Kidney Disease
Assessment of Longitudinal Changes in Endothelial Function and Oxidative Stress in Normotensive Patients With ADPKD
The purpose of this study is to determine whether patients with autosomal dominant polycystic kidney disease (ADPKD) present with abnormal endothelial function, increased levels of NOX4 activity and mitochondrial abnormalities…
- Trial name
- NCT03493802
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Friedreich Ataxia
Rosuvastatin (Crestor) in Friedreich Ataxia
This study is an exploratory open-label clinical trial of Rosuvastatin in patients with Friedreich ataxia (FRDA). This is an outpatient trial with the goal of enrolling 10 evaluable adults with genetically confirmed FRDA who are…
- Trial name
- NCT02705547
- Testing
- Rosuvastatin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital of Philadelphia
Breast Neoplasms
The Impact of Chronic Mitochondrial Antioxidant Supplementation on CardiovascularToxicity in Breast Cancer Patients
Investigate the protective effect of chronic MitoQ supplementation on cardiovascular toxicity induced by doxorubicin-based adjuvant chemotherapy in breast cancer patients.
- Trial name
- NCT05146843
- Testing
- Mitoquinone
- Volunteers
- 44 people
- Sponsor
- D'Or Institute for Research and Education
Non-alcoholic Fatty Liver Disease (NAFLD)
Elucidating Hepatic Metabolism in Non-alcoholic Fatty Liver Disease
The goal of this observational, cross-sectional, case-control clinical study is to investigate the metabolic adaptations underlying the progression of nonalcoholic fatty liver disease (NAFLD), and to test the hypothesis that…
- Trial name
- ECHO (NCT06942312)
- Testing
- Ketoisocaproic acid breath test, Ammonium Chloride, Bicarbonate de sodium
- Where
- Finland
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Helsinki University Central Hospital
Type 2 Diabetes Mellitus
Mitochondrial DNA Copy Number and Leukocyte Telomere Length as Biomarkers in Type 2 Diabetic Patients
Type 2 diabetes mellitus, which is characterised by a combination of insulin resistance and insufficient insulin secretion is a major contributor to the burden of morbidity and mortality worldwide.
- Trial name
- NCT05684406
- Testing
- Genotyping
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Sohag University
Assessment of Vascular Health Risk Factors
Innsbruck Health Promotion Program
The primary goal of this single-centre. single-arm, unblinded, pre-post interventional study is to evaluate whether a one-time health assessment and intervention affects the overall vascular health evaluated through the Life's…
- Trial name
- INNHEALTH (NCT06813677)
- Testing
- In-person health promotion
- Where
- Austria
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- VASCage GmbH
Retinitis Pigmentosa
Coloured-light in Retinitis Pigmentosa.
This study will assess the effect of 2 different colours of light on colour vision in adults with retinitis pigments (RP). Participants will be 18 years or above with a genetically confirmed molecular diagnosis of RP.
- Trial name
- CLIRP (NCT06224114)
- Testing
- Coloured-light torch, Different coloured-light torch
- Where
- United Kingdom
- Volunteers
- 70 people
- Sponsor
- University College, London
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Friedreich Ataxia
A Study to Find Out How BIIB141 (Omaveloxolone) is Processed in the Body and to Learn More About Its Safety in Participants With Friedreich's Ataxia Aged 2 to 15 Years Old
In this study, researchers will learn more about BIIB141, also known as omaveloxolone or SKYCLARYS®. This drug has been approved, or made available for doctors to prescribe, for people with Friedrich's Ataxia (FA) who are at…
- Trial name
- BOLD (NCT06054893)
- Testing
- Omaveloxolone
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Biogen
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
Friedreich Ataxia
Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia
Friedreich ataxia (FA) is a rare, inherited condition that progressively affects balance, coordination, and walking. Clinical trials of new FA treatments rely largely on standard clinical rating scales, but these can be tiring…
- Trial name
- STEP-OUT FA (NCT07731971)
- Testing
- Laboratory validation session (VSimulator), Home-based active gaming assessment
- Where
- United Kingdom
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Insulin Resistance
Dynamics of Muscle Mitochondria in Type 2 Diabetes (DYNAMMO T2D)
Insulin promotes the clearance of sugars from the blood into skeletal muscle and fat cells for use as energy; it also promotes storage of excess nutrients as fat.
- Trial name
- DYNAMMO-T2D (NCT02697201)
- Testing
- Intralipid, Saline
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Pennington Biomedical Research Center
Primary Open Angle Glaucoma
How Does Your Genetic Make-up (Profile) Influence Your Glaucoma?
Glaucoma is a group of diseases in which visual loss occurs because of damage to the optic nerve. Research has shown that certain genes may cause glaucoma in some cases.
- Trial name
- NCT00626847
- Where
- United States
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Wills Eye
Pyruvate Dehydrogenase Complex Deficiency
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency.
- Trial name
- NCT06340685
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Jirair Krikor Bedoyan
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