Clinical trials: Mitochondrial Metabolism
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
Colitis, HIV Infections
A Study of Ganciclovir in the Treatment of Cytomegalovirus of the Large Intestine in Patients With AIDS
To attempt to demonstrate the efficacy of ganciclovir (DHPG) treatment of cytomegalovirus (CMV) colitis in AIDS patients by evaluating both clinical and virologic parameters.
- Trial name
- NCT00002273
- Testing
- Ganciclovir
- Where
- United States
- Sponsor
- Hoffmann-La Roche
MItochondrial Myopathies
RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR
Mitochondrial myopathies are a multisystemic group of disorders that are characterized by a wide range of biochemical and genetic mitochondrial defects and variable modes of inheritance.
- Trial name
- NCT02255422
- Testing
- Omaveloxolone capsules, 2.5 mg, omaveloxolone capsules, 5 mg, omaveloxolone capsules, 10 mg
- Where
- 9 sites in United States, Denmark
- Volunteers
- 53 people
- Sponsor
- Biogen
Friedreich Ataxia
Study of the Efficacy and Safety of Nicotinamide in Patients With Friedreich Ataxia
Friedreich ataxia is the most frequent early-onset autosomal recessive hereditary ataxia. It is caused by a pathological expansion of a GAA repeat in the first intron of the frataxin gene (FXN) and results in decreased levels of…
- Trial name
- NICOFA (NCT03761511)
- Testing
- Nicotinamide
- Where
- 7 sites in Austria, France and 4 more
- Sponsor
- RWTH Aachen University
Neuro-Ophthalmology, Optic Neuropathies
Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study
OCT-A and eco-colordoppler are technologies which enable optic nerve head (ONH) blood perfusion detection. The aim of the study is to assess ONH vascular and structural components in optic neuropathies with and without ONH edema…
- Conditions
- Neuro-Ophthalmology, Optic Neuropathies, Optic Atrophy, Hereditary, Leber, Optic Neuropathy, Anterior Ischemic
- Trial name
- FlowONH (NCT07075887)
- Volunteers
- 70 people
- Sponsor
- Barboni
Obesity, Insulin Resistance
Nicotinamide Riboside and Metabolic Health
This study will investigate the effects of 6 week Nicotinamide Riboside supplementation (1000 mg/day) on metabolic health in healthy (pre)obese humans. The primary objective will be hepatic and whole body insulin sensitivity.
- Trial name
- NCT02835664
- Testing
- Nicotinamide Riboside (Niagen)
- Where
- Netherlands
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Friedreich Ataxia
A Study to Assess the Safety and Efficacy of Vatiquinone in Participants With Friedreich Ataxia
The primary objective of this study is to assess the long-term safety of vatiquinone in participants with Friedreich ataxia (FA) previously exposed to vatiquinone.
- Trial name
- NCT05515536
- Testing
- Vatiquinone
- Where
- 14 sites in United States, Australia and 7 more
- Volunteers
- 130 people
- Sponsor
- PTC Therapeutics
Friedreich Ataxia
A Study to Learn How BIIB141 (Omaveloxolone) Affects the Health of Participants With Friedrich's Ataxia Who Took it During Pregnancy and/or During Breastfeeding and About the Health of Their Babies
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 Friedrich's Ataxia, also known as FA.
- Trial name
- NCT06628687
- Testing
- Omaveloxolone
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Biogen
Pyruvate Dehydrogenase Complex Deficiency Disease
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these…
- Trial name
- NCT03056794
- Testing
- No intervention
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- University of Pittsburgh
Friedreich Ataxia
Safety Study of Idebenone to Treat Friedreich's Ataxia
This study will determine the highest dose of idebonone that can safely be given to patients with Friedrich's ataxia, an inherited degenerative disease that causes loss of muscle coordination, speech problems, weakness and…
- Trial name
- NCT00015808
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Infertility, Female, Polycystic Ovary Syndrome
Polycystic Ovary Syndrome, Mitochondrial Dysfunction, Obesity, Insulin Resistance Infertility (POMODORI) Cohort
Enrolling of 150 female patients of fertile age diagnosed with PCOS, insulin resistance, infertility, or mitochondrial disease, and the same number of age- and sex-matched controls are planned.
- Conditions
- Infertility, Female, Polycystic Ovary Syndrome, Insulin Resistance, Primary Ovarian Insufficiency
- Trial name
- POMODORI (NCT06167135)
- Where
- Hungary
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Semmelweis University
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
Mitochondrial Diseases
The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial Diseases
Mitochondrial diseases occur due to inadequate energy production. In addition, nitric oxide (NO) deficiency occurs in mitochondrial diseases.
- Trial name
- NCT02809170
- Testing
- Arginine, Citrulline
- Where
- United Arab Emirates
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Tawam Hospital
Subarachnoid Hemorrhage, Aneurysmal, Intracranial Aneurysm
Predictors of Rupture Risk of Intracranial Aneurysms
Patients admitted to Haukeland University Hospital with either UIA or aSAH underwent a measurement of bioelectrical impedance and body mass composition using InBody 10. Lipids and lipoproteins were collected from plasma.
- Trial name
- RAPID (NCT04613427)
- Where
- Norway
- Volunteers
- 60 people
- Sponsor
- University of Bergen
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet Plus Ganciclovir in the Treatment of Cytomegalovirus of the Eye in Patients With AIDS Who Have Already Been Treated With Ganciclovir
To examine the safety and tolerance of the administration of ganciclovir and foscarnet given together or alternately; to determine the interactive pharmacokinetics (blood level) profile of long-term combined and alternating…
- Trial name
- NCT00000970
- Testing
- Foscarnet sodium, Ganciclovir
- Where
- 6 sites in United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Mitochondrial Disease
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
N-Acetylcysteine (NAC), an anti-oxidant, will be studied to investigate the effects on brain glutathione levels, cognitive skills, motor skills, and quality of life.
- Trial name
- NCT05241262
- Testing
- N-Acetylcysteine
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Michio Hirano, MD
Cockayne Syndrome
Metabolic Study of Cockayne Syndrome
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair.
- Trial name
- METABO-CS (NCT03044210)
- Testing
- Metabolic evaluation
- Where
- France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
MELAS Syndrome
Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes
The purpose of this study is to compare the efficacy of two (2) different doses of idebenone with that of a placebo over a one month period on cerebral lactate concentration as measured by magnetic resonance spectroscopy.
- Trial name
- MELAS (NCT00887562)
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Michio Hirano
MELAS Syndrome
Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome
Patients with the MELAS syndrome experience devastating mental impairment. This study will evaluate the effectiveness of the drug dichloroacetate (DCA) to reduce the symptoms of MELAS.
- Trial name
- NCT00068913
- Testing
- Dichloroacetate
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Mitochondrial Disease, Chronic Metabolic Disorder
Energy Requirements in Mitochondrial Disease
Metabolic diseases and mitochondrial disorders are caused by genetic mutation which lead to disruptions in energy producing pathways in our body.
- Trial name
- NCT01776918
- Where
- Canada
- Volunteers
- 23 people
- Sponsor
- University of British Columbia