Clinical trials: Mitochondrial Disorders
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in…
- Conditions
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
- Trial name
- NCT01780168
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Urea Cycle Disorders, Inborn, Urea Cycle Disorders
Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD
Phase 1/2 Study of KRRO-121 is a randomized, placebo-controlled study in Healthy Volunteers (Phase 1 SAD and MAD) and Study Participants with Urea Cycle Disorders (Phase 2).
- Conditions
- Urea Cycle Disorders, Inborn, Urea Cycle Disorders, Ornithine Transcarbamylase (OTC) Deficiency, Arginase 1 Deficiency
- Trial name
- ANCHOR (NCT07773246)
- Testing
- KRRO-121
- Where
- Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Korro Bio, Inc.
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
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
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
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
Mitochondrial Energetics, Dietary Nitrate
Effect of Dietary Nitrate on Immobilization-induced Changes in Skeletal Muscle in Young Healthy Men
Diminished use of skeletal muscle, such as occurs with many chronic diseases (e.g., heart failure or cancer cachexia), denervation, bedrest, immobilization (e.g., limb casting or bracing), etc., is a common clinical condition…
- Conditions
- Mitochondrial Energetics, Dietary Nitrate, Disuse Atrophy (Muscle) of Lower Leg
- Trial name
- NCT07161973
- Testing
- Beetroot Juice - Active
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Indiana University
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
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
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
Mitochondrial Disorders, Mitochondrial Disease
Tissue Sample Study for Mitochondrial Disorders
The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA).
- Conditions
- Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer
- Trial name
- NCT01803906
- Where
- United States
- Volunteers
- 6,900 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial Diseases, Developmental Delay Disorder
Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurodevelopmental Disorders
Background: Small-Fiber-Neuropathy describes the degeneration of mildly or unmyelinated nerve fibers and causes neuropathic pain and autonomic dysfunction.
- Conditions
- Mitochondrial Diseases, Developmental Delay Disorder, Small Fiber Neuropathy, Cerebral Palsy
- Trial name
- SFN_children (NCT05645874)
- Testing
- Skin biopsy
- Where
- Germany
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf
Mitochondrial Diseases, Bone Remodeling Disorder
The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
Cell and mice studies suggest mitochondrial dysfunction may cause altered bone structure. Hypothesis: Decreased mitochondrial energy production affects bone cell development and activity negatively.
- Trial name
- NCT05483738
- Testing
- Clinical assessment, blood samples, bone marrow and bone biopsy
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Aalborg University Hospital
Mitochondrial Diseases, Mitochondrial Myopathies
Human Mitochondrial Stress-driven Obesity Resistance
The overarching aim of this observational study is to determine alterations in energy balance while exploring the underlying cellular mechanisms in human genetic models of mitochondrial stress.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Disorder
- Trial name
- MITO-OB-RES (NCT06080568)
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Mitochondrial Myopathies, Mitochondrial Diseases
Mitochondrial Dysfunctions Driving Insulin Resistance
The overarching aim of this observational study is to characterize muscle mitochondrial defects in individuals harboring pathogenic mitochondrial DNA (mtDNA) mutations associated with an insulin-resistant phenotype.
- Conditions
- Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders
- Trial name
- MITO-DYS-IR (NCT06080581)
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Parkinson Disease, Parkinsonism
A Study Into the Underlying Biochemical Pathways Involved in Parkinson's Disease, Such as Mitochondrial (Cellular "Powerhouse") Dysfunction
Parkinson's disease (PD) is a progressive neurological disorder that is increasingly common with age, with the incidence rising from approximately 4 people per 10,000 in their forties to 2 in 100 over the age of eighty.
- Trial name
- SysMedPD (NCT03421899)
- Where
- United Kingdom
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University College, London
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
Mitochondrial Disorders, Li-Fraumeni Syndrome
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer.
- Conditions
- Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
- Trial name
- NCT00406445
- Where
- United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Sporadic Dystonia, Dystonia, Familial
Imaging Neuromelanin and Iron in Dystonia/Parkinsonism
To generate pilot data to investigate the potential to use in vivo iron- and neuromelanin-quantification as imaging tools for the diagnostic evaluation of movement disorders with predominant dystonia / parkinsonism.
- Conditions
- Sporadic Dystonia, Dystonia, Familial, Parkinson Disease, Juvenile, Neurodegeneration With Brain Iron Accumulation 5
- Trial name
- NCT03572114
- Testing
- 3Tesla MRI, Burke-Fahn-Marsden Dystonia Rating scale, MDS-United Parkinsons Disease Rating Scale, Part III
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University College, London