Clinical trials: Mitochondrial Disease
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)
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
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 Myopathies, Mitochondrial Disease
Validation of Nanosensor Oxygen Measurement
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
- NCT06819683
- Testing
- Nanosensor
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
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
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
Sepsis, Critical Illness
Metabolic and Functional Study of γδ T Cells in Critically Ill Patients
This prospective observational cohort study investigates the subset-specific metabolic adaptation and functional remodeling of cytotoxic γδT cells in critically ill patients with and without sepsis.
- Conditions
- Sepsis, Critical Illness, Immunosuppression, MODS
- Trial name
- NCT07680816
- Where
- China
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
Mitochondrial Disease
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Background: Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life.
- Trial name
- NCT04419870
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Frailty, Aging
MItochondrial Intervention for Resilience in Older Adults With Coenzyme Q10
This randomized, double-blind, placebo-controlled clinical trial will investigate whether 10 weeks of CoQ10 supplementation can improve biological resilience and functional health in community-dwelling adults aged 65 years or…
- Conditions
- Frailty, Aging, Mitochondria Health, Skin Aging
- Trial name
- MIRO-Q (NCT07772336)
- Testing
- Q10Vital® (CoQ10, ubiquinone)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Medical Centre Ljubljana
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
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
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
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
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a programmable ambulation exoskeleton (KeeogoTM Dermoskeleton System, B-Temia Inc., Quebec, Canada) in patients with…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-KGO1 (NCT05199246)
- Testing
- Lower-limb powered dermoskeleton
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii)…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-NMD1 (NCT05200702)
- Testing
- Knee-hip Powered Soft Exoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland)
- Where
- France
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
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
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