Clinical trials: Mitochondrial Disorder
Friedreich Ataxia
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence.
- Trial name
- CPCAF (NCT05874388)
- Where
- France
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Cytomegalovirus Retinitis, HIV Infections
A Randomized Study Comparing the Safety and Efficacy of Two Regimens of Oral Ganciclovir to Intravenous Ganciclovir Maintenance Therapy for Cytomegalovirus Retinitis in People With AIDS Who Have Received Prior Ganciclovir Therapy
To compare the safety and tolerance of oral ganciclovir at a double dose 3 times/day or a single dose 6 times/day to IV ganciclovir given for 20 weeks of maintenance therapy.
- Trial name
- NCT00002247
- Testing
- Ganciclovir
- Where
- 20 sites in United States, Canada
- Volunteers
- 225 people
- Sponsor
- Hoffmann-La Roche
Type 2 Diabetes Mellitus
Role of Allopurinol on Oxidative Stress and Mitochondrial Alterations in Skeletal Muscle of Diabetic Patients
Our recent data in mice have demonstrated a key role of xanthine oxidase in hyperglycemia-induced by Reactive oxygen species production, and a preventive role of allopurinol (inhibitor of xanthine oxidase) on the keeping of…
- Trial name
- DIAXO (NCT02533648)
- Testing
- 2 capsules of allopurinol 150 mg daily for 3 month, 2 capsules of lactose daily for 3 month
- Where
- France
- Volunteers
- 31 people
- Sponsor
- Hospices Civils de Lyon
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
Friedreich's Ataxia
Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia
The purpose of this study is to determine if varenicline is effective in treating symptoms of Friedreich's ataxia.
- Trial name
- NCT00803868
- Testing
- varenicline
- Where
- 2 sites in United States
- Volunteers
- 28 people
- Sponsor
- University of South Florida
Azoospermia, Nonobstructive, Cryptozoospermia
Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men
Idiopathic non-obstructive azoospermia and cryptozoospermia are severe forms of male infertility in which sperm production is absent or extremely low and the cause is often unknown.
- Trial name
- MTND1-INA/C (NCT07691827)
- Where
- China
- Volunteers
- 1,200 people
- Sponsor
- The Third Affiliated Hospital of Guangzhou Medical University
Epilepsy, GLUT1DS1
Long-term Treatment With the Ketogenic Diet in Epilepsy
This study will provide a comprehensive assessment of long-term treatment with the ketogenic diet, a medical diet with high fat and low carbohydrate intake, focusing on safety and cardiovascular implications.
- Conditions
- Epilepsy, GLUT1DS1, PDH Deficiency
- Trial name
- NCT04646850
- Testing
- Color duplex ultrasound of the carotid arteries
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Metabolic Disease, Mitochondrial Diseases
Genetic Diagnosis in Inborn Errors of Metabolism
Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many…
- Conditions
- Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children, Epilepsy
- Trial name
- NCT06376279
- Testing
- IEM-EP
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Region Stockholm
Insulin Resistance, Diabetes
Pilot Study of Mitochondrial Biology in Human Platelets
Type II diabetes mellitus is rapidly becoming a global pandemic with a deleterious impact on cardiovascular morbidity and mortality.
- Trial name
- NCT00833846
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Vomiting, Migraines
Genetic Analysis of Children With Cyclic Vomiting Syndrome (CVS) and Migraines
The purpose of this study is to determine if there are genetic variations that can explain a genetic basis for cyclic vomiting syndrome (CVS).
- Trial name
- NCT00727974
- Where
- United States
- Volunteers
- 586 people
- Sponsor
- Medical College of Wisconsin
Friedreich Ataxia
A Study to Learn More About the Long-Term Safety of BIIB141 (Omaveloxolone) in Participants With Friedreich's Ataxia Who Are Prescribed it by Their Own Doctors
In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS®. This is a drug available for doctors to prescribe for people with Friedreich's Ataxia, also known as FA.
- Trial name
- NCT06623890
- Testing
- Omaveloxolone
- Where
- 14 sites in United States, Austria and 5 more
- Volunteers
- 300 people
- Sponsor
- Biogen
MELAS Syndrome
Nitric Oxide Production in MELAS Syndrome
Introduction Baylor College of Medicine and Texas Children's Hospital are recruiting individuals with MELAS syndrome for a clinical study.
- Trial name
- NCT01339494
- Testing
- Arginine and citrulline supplementations
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Friedreich Ataxia
A Study to Learn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Friedreich's Ataxia
In this study, researchers will learn more about omaveloxolone, also known as BIIB141 or SKYCLARYS®. Omaveloxolone is already approved for people with Friedreich's Ataxia (FA) who are 16 years of age or older.
- Trial name
- BRAVE (NCT06953583)
- Testing
- Omaveloxolone
- Where
- 34 sites in United States, Australia and 14 more
- Volunteers
- 255 people
- Sponsor
- Biogen
Diabetes Mellitus, Type 2
Rice Intervention in Chronic Health Study
The goal of this clinical trial is to learn if the low glycemic index (GI), polyphenol-rich red pigmented rice (UKMRC9) works to improve cardio-metabolic parameters in Malaysian adults with type 2 diabetes (T2D) and healthy…
- Trial name
- RICH (NCT06560541)
- Testing
- UKMRC9, White rice
- Where
- 10 sites in Malaysia
- Volunteers
- 204 people, healthy volunteers welcome
- Sponsor
- Taylor's University
Type 2 Diabetes Mellitus With Features of Insulin Resistance
Effects of Chronic Dietary Exposure to Branched Chain Amino Acids
Branched-chain amino acids (BCAA) belong among nutrients strongly linked with insulin sensitivity (IS) measures. Their exact effect on IS appears to be dependent on various conditions that remain to be better defined .
- Trial name
- NCT02684929
- Testing
- branched chain amino acids
- Where
- Czechia
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Charles University, Czech Republic
Renal Insufficiency, Chronic, Heart Failure With Preserved Ejection Fraction
Chronic Kidney Disease and Heart Failure With Preserved Ejection Fraction: The Role of Mitochondrial Dysfunction
The purpose of this study is to investigate the role of mitochondrial derived oxidative stress on exercise capacity and arterial hemodynamics in HFpEF patients with and without chronic kidney disease.
- Trial name
- NCT03960073
- Testing
- MitoQ
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Virginia Commonwealth University
Healthy
Dietary Polyphenols and Insulin Sensitivity in Overweight and Obese Humans
In this double-blind, randomized, placebo-controlled study, we aim to investigate the effects of a long-term supplementation on insulin sensitivity, mitochondrial function and substrate metabolism in healthy overweight men and…
- Trial name
- NCT02381145
- Testing
- EGCG+RSV-supplementation
- Where
- Netherlands
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Obesity, Visceral, Obesity
Genes Variability in Obesity and Normal Body Weight Patients.
The goal of this clinical trial is to learn about variability of gene SCD and MT-ATP6 in describe participant population and health conditions.
- Trial name
- NCT05789888
- Testing
- MT-ATP6 mtDNA gene variability in obesity and normal body weight patients., SCD gene variability in obesity and normal body weight patients., Finding TOFI and FOTI phenotypes in participants with obesity and normal weight.
- Where
- Poland
- Volunteers
- 116 people
- Sponsor
- Medical University of Bialystok
Mitochondrial Diseases, Mitochondrial Myopathies
Human Mitochondrial Stress-driven Obesity Resistance
The overarching aim of this observational study is to determine alterations in energy balance while exploring the underlying cellular mechanisms in human genetic models of mitochondrial stress.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Disorder
- Trial name
- MITO-OB-RES (NCT06080568)
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet