Clinical trials: Mitochondrial Disease, open to volunteers
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Lung Cancer (Diagnosis)
The Effects of Low-Intensity Endurance Exercise on Improving Fatigue, Sleep, Quality of Life, Mitochondrial Function, Cellular Bioelectrical Impedance Phase Angle, and Predictors of Exercise Adherence in Patients With Lung Cancer
To conduct a randomized controlled trial (RCT) targeting lung cancer patients with cancer-related fatigue to achieve the following objectives: Objective 1: To investigate whether a low-intensity endurance exercise intervention…
- Trial name
- NCT07795580
- Testing
- Low-Intensity Continuous Endurance Exercise Training, Low-Intensity Interval Endurance Exercise Training
- Where
- Taiwan
- Volunteers
- 450 people
- Sponsor
- Taipei Medical University
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Hepatic Histopathology in Urea Cycle Disorders
This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency
- Trial name
- NCT04908319
- Where
- 2 sites in United States
- Volunteers
- 70 people
- Sponsor
- Baylor College of Medicine
Autism Spectrum Disorder, Mitochondrial Pathology
Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders
The study involves up to 5 visits for a fasting blood draw, behavioral assessments, and/or questionnaires. Other samples may be collected when appropriate. This study is currently recruiting.
- Conditions
- Autism Spectrum Disorder, Mitochondrial Pathology, Epilepsy, Brain Tumor
- Trial name
- NCT04322734
- Where
- 2 sites in United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Southwest Autism Research & Resource Center
Diabetes Type 2, Frail Elderly Syndrome
Involvement of Muscle Mitochondrial Dysfunction in Frailty in Older Adults. Role of Exercise
This study aims to investigate the role of skeletal muscle mitochondrial dysfunction in the development of frailty in older adults and to evaluate whether a short-term, supervised resistance training intervention can improve…
- Conditions
- Diabetes Type 2, Frail Elderly Syndrome, Mitochondrial Function, Bioenergetics, Functionality
- Trial name
- MITOSTRENGTH (NCT07828847)
- Testing
- Short-duration resistance training
- Where
- Spain
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Fundación para la Investigación del Hospital Clínico de Valencia
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
Healthy, Diabetes Mellitus Type 1
The Effect of Light Therapy on Cellular Energy and Oxidative Stress in Healthy Adults and Type 1 Diabetic Patients
The goal of this clinical trial is to evaluate the effects of low-level light therapy on cellular energy and oxidative stress in healthy adults and patients with Type 1 diabetes.
- Trial name
- PBM-T1D (NCT07833865)
- Testing
- Red and Near-Infrared Light Therapy Pad
- Where
- Iraq
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Thi-Qar
Mitochondrial Diseases, Neurological Diseases or Conditions
The Natural History of Mitochondrial Diseases
The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases) The goal of this observational study (non-randomised retrospective and prospective) is to fully…
- Conditions
- Mitochondrial Diseases, Neurological Diseases or Conditions, Genetic Disease
- Trial name
- NCT06504433
- Testing
- Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
- Where
- Australia
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Neuroscience Research Australia
Friedreich's Ataxia, FRDA
GABA and GSH in FRDA
The goal of this study is to obtain gamma-aminobutyric acid (GABA) and glutathione (GSH) assessment derived from magnetic resonance spectroscopy (MRS), to be used as a potential biomarker in patients with Friedreich Ataxia (FRDA)…
- Trial name
- NCT07635030
- Testing
- MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Non-alcoholic Fatty Liver Disease NAFLD
Hepatic Mitochondrial Metabolism in Fatty Liver Disease in Humans
The goal of this clinical trial is to investigate in healthy volunteers the mechanisms by which ethanol and lipids, the two key risk factors of steatotic liver disease (SLD), affect liver mitochondrial metabolism.
- Trial name
- ALPHA (NCT06559878)
- Testing
- 13C-α-Ketoisocaproic Acid Breath Test, Ethanol, Lipid Emulsion
- Where
- Finland
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Helsinki University Central Hospital
Adverse Childhood Experience, Endothelial Function (FMD)
Probing the Role of Mitochondrial Oxidative Stress in Impaired Vascular Function Among Young Adults With Early Life Adversity
Adverse childhood experiences (ACEs) represent highly stressful events in the first 18 years of life that include abuse, neglect, and household and community-level dysfunction.
- Conditions
- Adverse Childhood Experience, Endothelial Function (FMD), Endothelial Injury, Mitochondrial Function
- Trial name
- PROMISE (NCT07244809)
- Testing
- Mitoquinone mesylate (MitoQ)
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Iowa
Healthy Subjects, Leber Hereditary Optic Neuropathy
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Leber hereditary optic neuropathy (LHON), due to mitochondrial DNA (mtDNA) mutations, is responsible for profound visual impairment. However, there is evidence that optic nerve damage begins before vision declines.
- Trial name
- MétabOCT (NCT06682819)
- Testing
- Optical coherent tomography
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hôpital Necker-Enfants Malades
Cachexia, Neoplasms
Cancer-associated Muscle Mass - Molecular Factors and Exercise Mechanisms
Muscle mass loss is a common adverse effect of cancer. Muscle mass loss occurs with or without reduction in body weight. Cancer cachexia (CC) is the involuntary loss of body weight of >5% within 6 months and it occurs in 50-80%…
- Conditions
- Cachexia, Neoplasms, Exercise, Metabolism
- Trial name
- PANACEA (NCT05307367)
- Testing
- Exercise training
- Where
- Denmark
- Volunteers
- 144 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
COPD
Effects of Eccentric Exercise Training in Patients With COPD
The goal of this study is to design eccentric exercise strategies for COPD patients to comprehensively improve their cardiopulmonary/muscular fitness, immune and hemorheological functions, and quality of life, thereby improving…
- Trial name
- NCT06168266
- Testing
- Eccentric bike, conventional group
- Where
- Taiwan
- Volunteers
- 170 people
- Sponsor
- Fu Jen Catholic University
No Disease, Mitochondria Health
Kaempferol Absorption and Pharmacokinetics Evaluation
This study is a multi-site clinical trial designed to evaluate how the body absorbs and processes Kaempferol, a naturally occurring compound found in many plant-based foods.
- Conditions
- No Disease, Mitochondria Health, Longevity, Pharmacokinetics and Biological Absorption of Kaempferol in Healthy Adult
- Trial name
- KAPE (NCT07322406)
- Testing
- Kaempferol
- Where
- 3 sites in United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Neurodevelopmental Disorders, Autism Spectrum Disorder
Patterns of Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.
- Conditions
- Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome
- Trial name
- NCT06213090
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Richard Frye
Cocaine Use Disorder, Healthy Controls Group - Age and Sex-matched
Imaging Mitochondrial Complex-I in Cocaine Use Disorder: a [F-18]BCPP-EF PET Study
Studies proposed in this application will image mitochondrial Complex-I in cocaine use disorder (CUD) and matched healthy controls
- Trial name
- NCT07773649
- Testing
- [F-18]BCPP-EF
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Rajesh Narendran
Alzheimer Disease
Mitochondrial Function and Metabolomic Profile in Alzheimer's Disease and Related Dementias
This project aims to study on one hand the early mitochondrial alterations, common or specific, occurring in peripheral cells of patients with Alzheimer's disease or related dementia and, on the other hand, identify the…
- Trial name
- AMPAlz (NCT06880406)
- Testing
- MMSE and blood draw
- Where
- France
- Volunteers
- 250 people
- Sponsor
- Centre Hospitalier Universitaire de Nice