Clinical trials: Mitochondrial Dysfunction
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland
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
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
Phelan-McDermid Syndrome
Mitochondrial Dysfunction in Phelan-McDermid Syndrome
The purpose of this study is to determine whether a relationship exists between gene deletion(s) specific to the mitochondrial electron transport chain and presentation of clinical characteristics in patients with Phelan-McDermid…
- Trial name
- NCT02000167
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- University of Arkansas
Peripheral Arterial Disease
Mechanisms That Produce the Leg Dysfunction of Claudication & Treatment Strategies
Intermittent claudication afflicts 5% of the US population older than 55 years of age and develops along with hardening of the arteries of the legs.
- Trial name
- NCT01970332
- Testing
- Revascularization Surgery, Supervised exercise therapy
- Where
- United States
- Volunteers
- 220 people
- Sponsor
- University of Nebraska
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Pediatric Obesity, Insulin Resistance
Intensive Exercise to Improve Mitochondrial Dysfunction in Pediatric Obesity
Obesity and type 2 diabetes are occurring at epidemic rates in the United States and worldwide. The global burden of diabetes is estimated to double over the next 25 years.
- Conditions
- Pediatric Obesity, Insulin Resistance, Mitochondrial Dysfunction
- Trial name
- NCT00962806
- Testing
- Exercise, Lifestyle counseling
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Massachusetts General Hospital
Prader-Willi Syndrome
Mitochondrial Complex I Dysfunction in PWS
Prader-Willi Syndrome (PWS) is characterized by profound infantile hypotonia, growth delay, cognitive impairment, muscle weakness and exercise intolerance.
- Trial name
- NCT03831425
- Testing
- Coenzyme Q10
- Where
- Canada
- Sponsor
- The Hospital for Sick Children
Autism Spectrum Disorder
Effect of a Wide Spectrum Nutritional Supplement on Mitochondrial Function in Children With Autism Spectrum Disorder
The objective of this study is to evaluate the metabolic effects of a comprehensive wide-spectrum supplement for children with ASD to determine whether it physiologically targets mitochondrial pathways known to be abnormal in…
- Trial name
- NCT03835117
- Testing
- Wide-spectrum nutritional supplement
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Rossignol Medical Center
Gastrointestinal Dysfunction, Mitochondrial Disorders
Gastrointestinal Dysfunction in Children Affected With Mitochondrial Disorders
Hypothesis: Many patients with underlying mitochondrial disorders have feeding problems because of poor gastrointestinal motility; feeding problems lead to growth impairment and many affected children are malnourished.
- Trial name
- NCT01137240
- Testing
- gastric emptying scan
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- The University of Texas Health Science Center, Houston
Autism Spectrum Disorder, Autism
Mitochondrial Dysfunction in Autism Spectrum Disorder
Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves up to 5 visits to Arkansas Children's Hospital with fasting blood draws…
- Conditions
- Autism Spectrum Disorder, Autism, Mitochondrial Disease, Developmental Delay
- Trial name
- Mito (NCT02000284)
- Where
- United States
- Volunteers
- 297 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
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
Mitochondrial Diseases, Barth Syndrome
An Intermediate Size Expanded Access Protocol of Elamipretide
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program.
- Trial name
- NCT04689360
- Testing
- elamipretide
- Sponsor
- Stealth BioTherapeutics Inc.
Friedreich Ataxia
A Study to Learn About the Effects and Safety of RTA 408 (Omaveloxolone) in People Aged 16 to 40 With Friedreich's Ataxia
In this study, researchers are learning more about RTA 408, also known as omaveloxolone, BIIB141, or SKYCLARYS®. The main goal of this study is to learn more about the safety of RTA 408 and how it affects physical effort…
- Trial name
- NCT02255435
- Testing
- Omaveloxolone Capsules, 2.5 mg, Omaveloxolone Capsules, 5 mg, Omaveloxolone Capsules, 10 mg
- Where
- 11 sites in United States, Australia and 3 more
- Volunteers
- 172 people
- Sponsor
- Biogen
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Rett Syndrome
Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin
The aim of this study is to evaluate the safety and tolerability of triheptanoin in participants with Rett syndrome using laboratory values, electrocardiogram, rate of adverse events (AE), and physical exam.This study also seeks…
- Trial name
- NCT02696044
- Testing
- triheptanoin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Center for Rare Neurological Diseases, Norcross, GA
Mitochondrial Diseases
Clinical Study of Hydroxytyrosol (HT) in Mitochondrial Diseases
Mitochondrial diseases (MDs) are the commonest group of inborn errors resulting from primary dysfunction of mitochondrial respiratory chain (MRC).
- Trial name
- NCT04543968
- Testing
- hydroxytyrosol (HT) intake, hydroxytyrosol (HT) intake and withdraw
- Where
- Hong Kong
- Volunteers
- 10 people
- Sponsor
- Hong Kong Children's Hospital
Depression, Bipolar Disorder
Mitochondrial Dysfunction, Inflammation, and White Matter Integrity in Youth With Mood Disorders
This study consists of three separate appointments including a clinical assessment (interview and questionnaires), a blood draw, a social stress test, and a brain MRI.
- Conditions
- Depression, Bipolar Disorder, Bipolar Disorder Not Otherwise Specified, Unspecified Mood Disorder
- Trial name
- NCT02596698
- Where
- 2 sites in United States
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Acute Liver Failure, Mitochondrial Diseases
Longitudinal Study of Mitochondrial Hepatopathies
The specific aims of this study are (1) to determine the clinical phenotypes and natural history of hepatic RC and FAO disorders, (2) to determine the correlation between genotype and phenotype, (3) to determine if circulating…
- Conditions
- Acute Liver Failure, Mitochondrial Diseases, End Stage Liver Disease, Respiratory Chain Deficiencies, Mitochondrial
- Trial name
- MITOHEP (NCT01148550)
- Where
- 16 sites in United States, Canada
- Volunteers
- 90 people
- Sponsor
- Arbor Research Collaborative for Health