Clinical trials: Mitochondrial Diseases, open to volunteers
Primary Mitochondrial Disease
Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
The primary objective of the FALCON study is to evaluate the efficacy of KL1333 on selected disease manifestations of primary mitochondrial disease (PMD) following 48 weeks of treatment.
- Trial name
- FALCON (NCT05650229)
- Testing
- KL1333
- Where
- 55 sites in United States, Australia and 9 more
- Volunteers
- 180 people
- Sponsor
- Pharming Technologies B.V.
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
Aging, Inflammation
Mitigating Mitochondrial RNA Release During Aging to Control Inflammation and Senescence
The MIRACLE study aims to investigate age-related mitochondrial dysfunction, mitochondrial RNA (mtRNA) release, inflammation, and cellular senescence in adult participants across three age groups.
- Conditions
- Aging, Inflammation, Healthy Ageing
- Trial name
- MIRACLE (NCT07596615)
- Testing
- Skin biopsy and venous blood sampling
- Where
- 2 sites in Italy
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Multiple Sclerosis (MS) - Relapsing-remitting, Multiple Sclerosis
Healthy Eating and Active Living for People Living With Multiple Sclerosis (HEAL MS): A Lifestyle Program for People With Multiple Sclerosis
The goal of this clinical trial is to learn whether a structured lifestyle program can improve health and wellbeing in people living with multiple sclerosis (MS).
- Trial name
- HEAL-MS (NCT07589062)
- Testing
- Multi-Domain Lifestyle Intervention
- Where
- United Arab Emirates
- Volunteers
- 30 people
- Sponsor
- New York University Abu Dhabi
Chronic Kidney Diseases, Metabolic Acidosis
Sodium Bicarbonate and Mitochondrial Energetics in Persons With CKD
Skeletal muscle metabolic health is critical for mobility and an underrecognized target of metabolic acidosis in chronic kidney disease.
- Conditions
- Chronic Kidney Diseases, Metabolic Acidosis, Fatigue, Physical Endurance
- Trial name
- Senergy-CKD (NCT04984226)
- Testing
- Sodium bicarbonate
- Where
- 2 sites in United States
- Volunteers
- 80 people
- Sponsor
- University of California, Davis
Gulf War Syndrome, Persian Gulf Syndrome
Coenzyme Q10 for Gulf War Illness: A Replication Study
The purpose of this study is to assess whether a high quality preparation of ubiquinone (coenzyme Q10) benefits symptoms, function, and quality of life in veterans with Gulf War illness.
- Conditions
- Gulf War Syndrome, Persian Gulf Syndrome, Mitochondrial Disorder, Respiratory Chain
- Trial name
- NCT06515184
- Testing
- PharmaNord Bio-Quinone Active CoQ10 Gold 100mg
- Where
- United States
- Volunteers
- 192 people
- Sponsor
- University of California, San Diego
Parkinson's Disease (PD), GBA1 Parkinson Disease
Understanding Alpha-Synuclein Spread in Parkinson's Disease Through Blood Biomarkers and Neuroimaging
The project aims to investigate how abnormal accumulation of alpha synuclein and its interaction with tau influence brain function across the Parkinson's disease (PD) spectrum, with particular focus on individuals carrying GBA1…
- Conditions
- Parkinson's Disease (PD), GBA1 Parkinson Disease, REM Sleep Behavior Disorder (iRBD)
- Trial name
- SYNchronPD (NCT07474779)
- Testing
- brain imaging, blood draw, Skin biopsy
- Where
- 2 sites in Italy
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University of Pavia
Idiopathic Infertility, Infertility Unexplained
Biological Aging Hallmarks-Guided Integrative TCM and Conventional Medicine in Post-Treatment Unexplained Female Infertility
The goal of this clinical trial is to determine whether telomere profiling and other biological aging hallmarks can help identify underlying mechanisms of persistent infertility in women with post-treatment unexplained…
- Conditions
- Idiopathic Infertility, Infertility Unexplained, Infertility (IVF Patients), Infertility Assisted Reproductive Technology
- Trial name
- TECMI (NCT07404969)
- Testing
- 1. Aging Hallmarks Biomarker Profiling (Telomere-Based), 2. Integrative Botanical and Nutraceutical Intervention, 3. Natural Conception or Assisted Reproductive Technologies
- Where
- Switzerland
- Volunteers
- 15 people
- Sponsor
- BEYOND GENOMiX SA, AG, Ltd
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
Long COVID, Post-COVID-19 Condition
Mitochondrial Function in Peripheral Blood Mononuclear Cells, Muscle, and Skin of Long COVID Patients
Mitochondria are structures inside cells that are responsible for producing energy from nutrients through a series of steps, using oxygen.
- Trial name
- MitoLoCo (NCT07134673)
- Where
- Belgium
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
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
Mitochondrial Disease
Development of a New Technique for Quantifying Mitochondrial DNA in Single Muscle Fibers
Mitochondrial diseases (MDs) are the most common metabolic disorders. Due to their great clinical and genetic heterogeneity, their diagnosis relies exclusively on the identification of pathogenic variants in nuclear genes or in…
- Trial name
- DIGITAL_MITO (NCT07511608)
- Testing
- Quantification of Mitochondrial DNA Heteroplasmy and Copy Number by Digital PCR in Mitochondrial Diseases
- Where
- 3 sites in France
- Volunteers
- 4 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD).
- Conditions
- Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome
- Trial name
- NCT07478172
- Testing
- Whole-body Electrical Muscle Stimulation Exercise
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Missouri-Columbia
Mitochondrial Diseases, Mitochondrial Myopathy
Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy
The goal of this observational study is to learn how exercise training affects molecular processes in skeletal muscle in adults with mitochondrial myopathy, compared with healthy adults.
- Trial name
- MM-EX (NCT07450690)
- Testing
- Unilateral high-intensity interval training (HIIT)
- Where
- Denmark
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Leber Hereditary Optic Disease
Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients
The goal of this Clinical trial is to assess the safety and efficacy of GS010 at two dose levels on visual acuity and retinal mitochondrial activity in patients affected with ND4 Leber Hereditary Optic Neuropathy (LHON)
- Trial name
- REVISE (NCT07303296)
- Testing
- GS010 High dose, GS010 Low dose
- Where
- France
- Volunteers
- 14 people
- Sponsor
- GenSight Biologics
Heart Failure, Type2diabetes
Mitochondrial Substrate Utilization in the Diabetic Human Heart
Diabetes can lead to heart failure independently, but the underlying causes remain incompletely understood. The main aim of this study is to identify differential regulation of mitochondrial substrate utilization and complex…
- Conditions
- Heart Failure, Type2diabetes, Insulin Resistance, Mitochondrial Diseases
- Trial name
- NCT05958706
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- Heinrich-Heine University, Duesseldorf
Mitochondrial Myopathies, Mitochondrial Diseases
Validation of Oxygen Nanosensor in Mitochondrial Myopathy
Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM).
- Trial name
- NCT04086329
- Testing
- Nanosensor
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Primary Mitochondrial Disease
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Primary Mitochondrial Disease (PMD) is a genetic neurometabolic disorder, leading to central nervous system degeneration and increased risk of early mortality.
- Trial name
- NCT06890520
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
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