Clinical trials: Mitochondrial Disorder
Friedreich Ataxia
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological…
- Trial name
- UNIFAI (NCT06016946)
- Where
- 34 sites in United States, Australia and 15 more
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Friedreich's Ataxia
Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia
The purpose of this long term extension study is to evaluate the long-term safety of ACTIMMUNE® (interferon-γ 1b) in participants with Friedreich's Ataxia (FA).
- Trial name
- STEADFAST (NCT02797080)
- Testing
- interferon γ-1b
- Where
- 4 sites in United States
- Volunteers
- 38 people
- Sponsor
- Amgen
Autism Spectrum Disorders
University of California, San Diego (UCSD) Suramin Autism Treatment-1 (SAT1) Trial
This study is designed to test the safety and efficacy of a single, intravenous dose of suramin in autism spectrum disorders (ASD).
- Trial name
- SAT1 (NCT02508259)
- Testing
- Suramin, Saline
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of California, San Diego
Leigh Syndrome
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
- Trial name
- NCT02352896
- Testing
- EPI-743
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- PTC Therapeutics
Chronic Obstructive Pulmonary Disease
Expression of SLC25A48 in Chronic Obstructive Pulmonary Disease
This study aims to investigate the expression level of SLC25A48, a mitochondrial choline transporter, in peripheral blood mononuclear cells of patients with chronic obstructive pulmonary disease, and to analyze its correlation…
- Trial name
- NCT07474220
- Where
- 2 sites in Taiwan
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Fu Jen Catholic University
Mitochondrial Disease
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Background: Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life.
- Trial name
- NCT04419870
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Friedreich Ataxia
Efficacy Study of Epoetin Alfa in Friedreich Ataxia
Friedreich's ataxia (FRDA) is a rare genetic disorder characterised by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency.
- Trial name
- FRIEMAX (NCT01493973)
- Testing
- Epoetin alfa
- Where
- 3 sites in Italy
- Volunteers
- 56 people
- Sponsor
- Federico II University
Muscle Weakness
Mitochondria and Muscle Health in Elderly
The aim of this study is to characterize the relation between skeletal muscle mitochondrial metabolism and muscle health in elderly, physically compromised humans.
- Trial name
- ELMIH (NCT03666013)
- Where
- Netherlands
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Maastricht University
Overweight, Obesity
Mitochondrial Methylation in Type 2 Diabetes
The overarching goal of this proposal is to determine whether DNA methylation of the mitochondrial DNA impairs mitochondrial function in insulin resistant states such as overweight/obesity and type 2 diabetes.
- Conditions
- Overweight, Obesity, Diabetes Mellitus, Type 2, Insulin Resistance
- Trial name
- NCT04126551
- Testing
- Methylation status
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University of Arizona
Heart Failure，Congestive, Heart Failure New York Heart Association Class IV
Nicotinamide Riboside in LVAD Recipients
While preliminary data show that oral nicotinamide riboside (NR) supplementation increases myocardial levels of oxidized nicotine-adenine dinucleotide (NAD+) levels in mice, there has been no direct evidence that suggests oral NR…
- Conditions
- Heart Failure，Congestive, Heart Failure New York Heart Association Class IV, Mitochondrial Alteration
- Trial name
- PilotNR-LVAD (NCT03727646)
- Testing
- Nicotinamide riboside
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Washington
Down Syndrome
Oxygen Uptake Kinetics During Submaximal Exercise in Adults With Down Syndrome
This study aims to compare the rate at which oxygen uptake adapts to submaximal, moderate intensity exercise (oxygen uptake kinetics) between adults with and without Down syndrome, to determine the contribution of oxygen uptake…
- Trial name
- NCT05995223
- Testing
- Submaximal exercise protocol
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Friedreich's Ataxia
Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia
The primary purpose of the study is to determine whether carbamylated erythropoietin is a safe treatment for patients who suffer from Friedreich's Ataxia.
- Trial name
- NCT01016366
- Testing
- Lu AA24493
- Where
- 7 sites in Austria, Germany and 1 more
- Volunteers
- 36 people
- Sponsor
- H. Lundbeck A/S
Long Covid, Chronic Inflammation
Periodic Fasting for Treatment of Long Covid in Adults: a Pilot Study
Background: Long COVID, characterized by persistent symptoms following acute COVID-19 infection, has emerged as a significant public health concern.
- Trial name
- FASTCOV-P (NCT06522750)
- Testing
- 7-day ambulatory caloric restriction intervention using the Buchinger-Wilhelmi method
- Where
- Luxembourg
- Volunteers
- 20 people
- Sponsor
- University of Luxembourg
Digestive Organs--Cancer, Bariatric Surgery Candidate
Mitochondrial Oxygraphy on Subcutaneous and Peri-visceral Adipose Tissue: Influence of Body Composition
The objective of this study is to adapt the oxygraphy technique on human adipocytes and to characterize respiration measurements according to patients' body mass index and white adipose tissue localization (subcutaneous vs…
- Conditions
- Digestive Organs--Cancer, Bariatric Surgery Candidate, Parietal Region Trauma
- Trial name
- OxMiTiAd (NCT05417581)
- Testing
- adipose surgery
- Where
- France
- Volunteers
- 67 people
- Sponsor
- University Hospital, Clermont-Ferrand
Autism Spectrum Disorders, Mitochondrial Diseases
Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
In this study, 50 children between 3 and 12 years old with formally diagnosed autistic spectrum disorders (ASD) and also having significant mitochondrial dysfunction will be treated for a 3 month period with the Mitochondrial…
- Trial name
- MitoASD (NCT02348125)
- Testing
- Mitochondrial Cocktail
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Drexel University
Friedreich Ataxia
A Clinical Study to Evaluate the Effect of MIN-102 on the Progression of Friedreich's Ataxia in Male and Female Patients
Randomized, double-blind, placebo-controlled study on the effects of MIN-102 on Biochemical, Imaging, neurophysiological, and clinical markers in patients with Friedreich's Ataxia
- Trial name
- FRAMES (NCT03917225)
- Testing
- MIN-102
- Where
- 5 sites in Belgium, France and 2 more
- Volunteers
- 39 people
- Sponsor
- Minoryx Therapeutics, S.L.
Sarcopenia, Nicotinamide Adenine Dinucleotide Concentration
Impacts of Nicotinamide Riboside on Functional Capacity and Muscle Physiology in Older Veterans
Frailty is an age-associated clinical condition of poor physiological reserve that increases risks for falls, hospitalization and mortality.
- Conditions
- Sarcopenia, Nicotinamide Adenine Dinucleotide Concentration, Muscle Quality and NAD+ Content
- Trial name
- NR-VET (NCT04691986)
- Testing
- Nicotinamide Riboside
- Where
- United States
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- VA Office of Research and Development
Diabetes, Hyperglycemia
Hyperglycemia and Mitochondrial Function in The Endothelium of Humans
In this study, the investigators will test the hypothesis that acute in vivo exposure to hyperglycemia increases mitochondrial network fragmentation and mitochondrial reactive oxygen species production (ROS) production in human…
- Trial name
- NCT02682342
- Testing
- 75 g glucose solution
- Where
- United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute