Clinical trials: Primary Mitochondrial Diseases
Primary Mitochondrial Diseases
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes.
- Trial name
- NCT06474104
- Where
- Israel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Minovia Therapeutics Ltd.
Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies
A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
This will be a double blind, randomised, placebo controlled, single and multiple oral dose study conducted in 3 parts: Part A, Part B and Part C.
- Conditions
- Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies, MELAS Syndrome, Mitochondrial Myopathies
- Trial name
- NCT03888716
- Testing
- KL1333
- Where
- 2 sites in United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Abliva AB
Primary Mitochondrial Disease
Natural History Study of Mitochondrial Myopathy
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM).
- Trial name
- NCT05250375
- Where
- United States
- Volunteers
- 1,300 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
Healthy, Obesity
Metabolic Phenotyping in Humans
Type 2 diabetes (T2D) is a global burden disease affecting almost 200 million people and is expected to nearly double by 2030 (1).
- Conditions
- Healthy, Obesity, Type 2 Diabetes Mellitus
- Trial name
- MetPhe (NCT01298375)
- Where
- Netherlands
- Volunteers
- 132 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Retinitis Pigmentosa, Macula Off
Transcorneal Electrical Stimulation Therapy for Retinal Disease
Transcorneal stimulation may enable neurons to survive degeneration processes via enhanced secretion of neurotrophic substances and direct stimulation of neurons.
- Conditions
- Retinitis Pigmentosa, Macula Off, Primary Open Angle Glaucoma, Hereditary Macular Degeneration
- Trial name
- NCT00804102
- Testing
- Transcorneal Electrical Stimulation, DTL-electrode attached without energy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Okuvision GmbH
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Energy Metabolism, Metabolic Syndrome
Energy Metabolism in Branched-chain Organic Acidemias
Energy metabolism and insulin sensitivity were assessed in a case-control study in patients with branched-chain organic acidemias.
- Conditions
- Energy Metabolism, Metabolic Syndrome, Insulin Resistance
- Trial name
- NCT03917212
- Testing
- No intervention
- Where
- 2 sites in Germany
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- German Diabetes Center
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
Mitochondrial Diseases, Obesity
Muscle OXPHOS and Nutrient Homeostasis
Investigators are recruiting adults (men and women, ages 18 to 65 years, inclusive) with a confirmed genetic diagnosis of mitochondrial disease.
- Trial name
- NCT02920671
- Testing
- Tracer-enhanced oral glucose tolerance test (OGTT*), Muscle MRI, Dual energy x-ray absorptiometry (DXA)
- Where
- 2 sites in United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Respiratory Tract Infections (RTI), Meningitis
Immune-Mitochondrial Correction in Military Recruits
The goal of this clinical trial is to learn if a new immune-mitochondrial correction strategy works better than standard vitamins to prevent infections in young male military recruits during their first 6 months of service.
- Conditions
- Respiratory Tract Infections (RTI), Meningitis, Primary Prevention/Methods, Primary Prevention
- Trial name
- IMMU-MITO (NCT07622147)
- Testing
- Multivitamin/Mineral supplements, Sodium nucleinate combination
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- MIPO Clinic
Migraine
Safety and Efficacy of Oral Idebenone for Preventive Treatment of Migraine in Adult Migraine Patients
This is a multi-center, prospective, double-blind randomized controlled trial on a sample of patients with migraine. Subjects will only be enrolled when a physician or research assistant who is familiar with the study protocol is…
- Trial name
- NCT05411978
- Testing
- Idebenone
- Where
- China
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Beijing Tiantan Hospital
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
Primary Open Angle Glaucoma
How Does Your Genetic Make-up (Profile) Influence Your Glaucoma?
Glaucoma is a group of diseases in which visual loss occurs because of damage to the optic nerve. Research has shown that certain genes may cause glaucoma in some cases.
- Trial name
- NCT00626847
- Where
- United States
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Wills Eye
Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome
The Precision Mito- Mito Map COMPASS Study
Mito Map is a research tool that produces an Energy Score from information provided by a participant. This remote observational study has an initial enrollment target of 400 adults across seven prespecified cohorts: healthy…
- Conditions
- Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome, Post-COVID-19 Condition, Postural Orthostatic Tachycardia Syndrome
- Trial name
- COMPASS (NCT07856121)
- Testing
- Mito Map Energy Score and Home Functional Assessments
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- AI Agent Vault, Inc. d/b/a Precision Mito
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
Mitochondrial Myopathies, Mitochondrial Diseases
Applying pGz in Mitochondrial Disease
This is a multi-aim study, studying the effects of conventional exercise (measured through Cardiopulomary Exercises Testing or an in-bed pedal exercise) and passive exercise through periodic acceleration (pGz).
- Trial name
- NCT05569122
- Testing
- Cardiopulmonary Exercise Testing, pGz Bed, Gentle Jogger
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia