Clinical Trials for Mitochondrial Diseases

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Mitochondrial Diseases from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 21
• Active, not recruiting: 3
• Completed: 12
• Other: 14

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT01780168 — 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 individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by problems with the cell s ability to produce energy. Infection in individual…

NCT02435940 — 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. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on …

NCT03011541 — Stem Cell Ophthalmology Treatment Study II

This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.

NCT04419870 — 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. Infection is a major cause of disease and death in people with this disease. Researchers want to learn more about these infections and the declining health of people who …

NCT05136846 — Papaverine in Combination With Chemoradiation for the Treatment of Stage II-III Non-small Cell Lung Cancer

This phase I trial finds out the best dose, possible benefits and/or side effects of papaverine when given together with chemoradiation intreating patients with stage II-III non-small cell lung cancer. Papaverine targets mitochondrial metabolism to decrease the cancer growth process. Giving papaverine with chemoradiation may work best to treat patients with non-small cell lung cancer.

NCT05650229 — 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. This objective involves evaluating the efficacy of KL1333 versus placebo on fatigue symptoms and impacts on daily living as well as on functional lower extremity strength and endurance. Additionally, the study …

NCT05346627 — Home Based Personalized Training and Video Consultation in Mitochondrial Myopathies: Study of Efficacy and Tolerance.

Positive effect of physical activity on health arouses a strong interest at international level and is developped within the scope of national programs. Recommandations exist but must be designed for patients with functional limitations of activities.

Patients with mitochondrial diseases have exercice intolerance with an increase of muscular weakness and fatigue after low exercice volume. Thes…

NCT05234723 — Ganciclovir Resistant/Refractory Cytomegalovirus Infection in SOT Recipients and HSCT Patients

The ReCySOHT study is a multicenter, retrospective, observational case-control study on the risk factors for developing a ganciclovir-resistant/refractory (GCV-RR) cytomegalovirus infection in patients receiving solid organ transplant (SOT) or hematopoietic stem cell transplant (HSCT). Aims of the study are to investigate the incidence of and risk factors for GCV-RR CMV infection in SOT recipie…

NCT06447025 — An Open-Label Study of CTI-1601 in Subjects With Friedreich’s Ataxia

An open label study designed to evaluate the safety, PK, PD, and clinical effects of long-term daily administration of CTI-1601 enrolling adolescent and adult patients with FRDA who have participated in a prior clinical study of CTI-1601 as well as children (age 2 years and older), adolescents and adults with FRDA who have not participated in a prior clinical study of CTI-1601.

NCT06819475 — Imaging Skeletal Muscle Mitochondrial OXPHOS Activity In Acute Lymphoblastic Leukemia Survivors

The participants are being asked to take part in this trial, because the participant is a survivor of childhood cancer or agreed to be part of a volunteer group to understand the relation between cancer and cancer treatment and muscle weakness in survivors of Acute Lymphoblastic Leukemia (ALL). ALL is cancer of the blood and bone marrow.

Primary Objective

• To compare muscle mtOXPHOS activity…

NCT06891443 — 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 (p.Cys998X) mutation in the CEP290.

NCT06953583 — A Study to Learn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Friedreich’s Ataxia

In this study, researchers will learn more about omaveloxolone, also known as BIIB141 or SKYCLARYS®. Omaveloxolone is already approved for people with Friedreich’s Ataxia (FA) who are 16 years of age or older. However, it is not yet available for younger teens and children. The main goal of this study is to learn how omaveloxolone affects symptoms of FA and its safety in younger participants be…

NCT06880406 — 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 metabolomic biomarkers that may be at the origin of mitochondrial disturbances associated with the disease. This will be the first study combining functional analyses of mitocho…

NCT06970106 — Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle)

This study aims to gather safety data and determine the optimal dosing regimen for PYC-001 in participants with confirmed OPA1 mutation-associated ADOA. Approximately 18 participants from Australia, New Zealand, and other APAC countries are expected to be enrolled, depending on safety review committee (SRC) throughout the course of the study.

Participants may be assigned to any of the followin…

NCT06865482 — Clinical Course Of Disease In Participants With FA-CM

Characteristics and clinical course of disease In participants with cardiomyopathy associated with Friedreich Ataxia (CLARITY-FA)

NCT07651787 — Using Light Therapy for Mild Cognitive Impairment

The goal of this clinical trial is to test whether transcranial photobiomodulation (tPBM), a non-invasive brain stimulation technique using near-infrared light, can improve brain blood flow regulation (neurovascular coupling) and cognitive function in people with mild cognitive impairment (MCI). The main questions it aims to answer are:

• Does tPBM enhance cognitive function and cerebral hemod…

NCT07180355 — A Study of SGT-212 Gene Therapy in Friedreich’s Ataxia

This is a phase 1b, first in-human, open-label, dose-finding study investigating the safety and tolerability of SGT-212 in participants with Friedreich’s ataxia (FA). It will be delivered via dual intradentate nucleus (IDN) and intravenous (IV) administration to participants with FA.

All participants will receive SGT-212 and will be enrolled in the study for approximately 5 years.

NCT07601841 — Light Therapy to Improve Sleep in TBI: Sleep-active Biomarkers and Glymphatic Function

This is a clinical trial designed to examine how improved sleep through morning bright light therapy is improving downstream key physiologic processes related to brain health, i.e., mitochondrial function, systemic inflammation, and glymphatic function. All proposed methodology is already approved in other IRB applications.

NCT07600996 — Cerebrospinal Fluid Mitochondrial Biomarkers in Ischemic Stroke and Alzheimer Disease

This prospective observational study aims to investigate cerebrospinal fluid mitochondrial biomarkers in patients with ischemic stroke and Alzheimer disease controls who undergo diagnostic lumbar puncture for clinical indications at Xuanwu Hospital, Capital Medical University.

Residual cerebrospinal fluid samples will be analyzed by flow cytometry to quantify mitochondrial content, mitochondri…

NCT06451757 — KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases

The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of people like balance control and lower limb skeletal muscle strength in people with mitochondrial disease.

In this study, the effects of sonlicromanol are compared agains…

NCT07474220 — Expression of SLC25A48 in Chronic Obstructive Pulmonary Disease

This study aims to investigate the expression level of SLC25A48, a mitochondrial choline transporter, in peripheral blood mononuclear cells of patients with chronic obstructive pulmonary disease, and to analyze its correlation with inflammatory markers and choline metabolic byproducts.

Active, Not Recruiting

NCT03655223 — 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 families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health condi…

NCT06573866 — Enhancement of Quality of Work And Life

Work participation is essential for quality of life, providing purpose, social interaction, financial security, and shaping social status. Work participation is increasingly compromised in people with slowly progressive chronic disorders (hereafter referred to as progressive disorders). This negatively impacts their quality of life. Early work-related support, focused on sustainable work-retent…

NCT06961344 — An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)

The goal of this clinical trial is to evaluate the long-term safety and tolerability of zagociguat in patients with MELAS who completed study medication treatment in the lead-in study TIS6463-203. TIS6463-204 is evaluating zagociguat in an open-label extension study at the daily dose of 15mg. The study medication is a once daily oral table and will be provided at the clinic and/or shipped to th…

Not Yet Recruiting

NCT07589062 — 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). The program focuses on four areas: nutrition, physical activity, sleep, and stress management. The study will also examine how lifestyle changes affect biological markers related to inflammation, metabolism, and immune function.

The …

NCT07606872 — Validation of the Snouda Metabolic Score for Phenotyping and Guiding Reversal in Type 2 Diabetes

This study tests a new tool called the Snouda Metabolic Score (SMS) that helps doctors identify the specific metabolic problems driving Type 2 Diabetes in each individual patient. Instead of treating all diabetic patients the same way, the SMS classifies patients into one of several metabolic phenotypes - patterns of dysfunction across five body systems: insulin resistance, chronic inflammation…

NCT07317401 — Investigating the Effects of Intermittent Hypoxia-Hyperoxia Treatment (IHHT) in People With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) to Improve Fatigue, Pain, and Quality of Life by Targeting Mitochondrial Dysfunction and Autonomic Nervous System Impairment

This study is testing a new treatment for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and long-term symptoms after COVID-19. Both conditions cause extreme fatigue, muscle pain, “brain fog,” and trouble concentrating, which often get worse after physical or mental activity. Currently, no effective treatments are available.

The treatment being studied is called Interm…

NCT07101107 — Socio-cognitive and Biological Responses to Maltreatment

The study will investigate how a history of emotional childhood maltreatment (CM) is associated with different aspects of psychological (social behaviour, empathy) and biological (brain function and structure, inflammation) health. In fact, CM is a risk factor for many mental disorders, such as schizophrenia and autism. However, it is unclear how a history of emotional CM affects psychological …

NCT07680816 — 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. Emerging evidence indicates that γδT cells, as a bridge between innate and adaptive immunity, play a critical role in early anti-infection defense during sepsis. However, the functional status and u…

NCT07681713 — Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich’s Ataxia (FA)

The purpose of this study is to confirm the treatment effects of vatiquinone on the key measures of FA disease progression.

NCT07596615 — 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. Skin-derived fibroblasts and peripheral blood mononuclear cells (PBMCs) will be isolated from skin biopsy and blood samples to characterize age-related cellular and molecular changes and to test exper…

NCT07557693 — Mitochondrial Network Modulation Approach Using Hyperbaric Oxygen (HBO) Therapy and Nb-UVB for Treating Vitiligo

Vitiligo affects approximately 1 to 2% of the global population and significantly impacts people’s quality of life. Achieving the best treatment outcomes for vitiligo involves addressing the autoimmune inflammatory response for stopping the depigmentation process and promoting the differentiation of melanocyte stem cells to induce re-pigmentation. The loss of melanocytes in vitiligo is a result…

NCT06792500 — A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber’s Hereditary Optic Neuropathy-Plus (LHON-Plus)

This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber’s hereditary optic neuropathy-Plus (LHON-Plus) participants will undergo simultaneous enrollment in two disease-based arms and receive daily oral doses of glycerol tributyrate to assess its safety …

NCT07622147 — 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.

The main questions it aims to answer are:

1. Does the new strategy lower the number of recruits who get infections (like colds, flu, or pneumonia) over 6 months?
2. Does t…

Enrolling by Invitation

NCT06376279 — 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 diseases novel therapies are being developed. Without treatment, many of the conditions result in early death or severe irreversible handicaps.

The Centre for Inherit…

NCT07635030 — 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) prior to (Aim 1), and after taking Omaveloxolone (Aim 2). Analysis will consist of:

A. Comparison of values in controls with those of FRDA patients (Aim 1) B. Longitu…

Completed Trials

NCT02051504 — Muscle Oxygenation, Type 1 Diabetes, and Glycated Hemoglobin

Most of the studies concerning aerobic fitness in Type 1 diabetic patients noted a relationship between impaired aerobic fitness and high glycated haemoglobin (HbA1c) levels, reflecting poor long term glycaemic control. To explain this relationship, the indirect effect of chronically high blood glucose levels on cardiovascular complications - and hence on exercise cardiovascular adaptations - a…

NCT03835117 — Effect of a Wide Spectrum Nutritional Supplement on Mitochondrial Function in Children With Autism Spectrum Disorder

The objective of this study is to evaluate the metabolic effects of a comprehensive wide-spectrum supplement for children with ASD to determine whether it physiologically targets mitochondrial pathways known to be abnormal in children with ASD.The intervention is a commonly used wide-spectrum nutritional supplement, which is theoretically designed to normalize mitochondrial function. The invest…

NCT04389112 — Study of Metabolic Changes in the Transformation Malignant Precancerous Skin Lesions

Skin carcinomas are the most frequent cancers in the world, including basal cell carcinomas and cutaneous squamous cell carcinoma (cSCCs), with more than 60.000 new annual cases in France. Their incidence increases mainly due to ultraviolet (UV) exposure and population ageing. Then from 1994 to 2006, the incidence of cSCC has increased by 300%. CSCCs typically manifests as a spectrum from a pre…

NCT04346238 — Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich’s Ataxia

Friedreich’s ataxia (FA) is the most frequent recessive genetic ataxia with an estimated prevalence of 1/50 000. The first symptoms appear around the age of 10 years with a progressive course and the need for an armchair 10- 15 years after the first symptoms. More rarely the disease can present with a late onset (after the age of 25) with a picture characterized by spastic paraparesis and slowe…

NCT04264897 — Antecedent Metabolic Health and Metformin Aging Study

Aging is the number one risk factor for the majority of chronic diseases. There are no pharmaceutical treatments to slow aging and prolong healthspan. The anti-diabetic drug metformin is considered a likely pharmaceutical candidate to slow aging. In this study, the investigators hypothesize that metformin treatment in subjects free of type 2 diabetes will improve insulin sensitivity and glucore…

NCT04550676 — High-Intensity Exercise to Attenuate Limitations and Train Habits in Older Adults With HIV

This is a multi-site, randomized, single-blind (researchers), active treatment concurrent control trial with individuals aged 50-80 living with HIV who experience fatigue and live a sedentary lifestyle. The overall goals of this proposal are to determine whether high-intensity interval training (HIIT) can overcome physical function impairments and increased fatigue (Aim 1) and impairments in mi…

NCT04921930 — Evaluation of the Effect of Artesunate in Friedreich Ataxia (FA)

This dose-escalation study is aimed at investigating a novel application for artesunate in the treatment of Friedreich ataxia. It will evaluate this novel application of oral artesunate using a surrogate biological marker as primary endpoint in a phase I-II open trial

NCT06509880 — Immunosurveillance for Metastatic Colorectal Cancer

The goal of this clinical trial is to learn if adding sodium nucleinate to FOLFOX chemotherapy helps people with metastatic colorectal cancer (colon or rectal cancer that has spread). Researchers will also look at side effects and how people feel during treatment.

The main questions this study aims to answer are:

1. Does adding sodium nucleinate help treatment work better?
2. Does it improve …

NCT07590609 — Effect of XingpiJieyu Formula on Mitochondrial Energy Metabolism in Severe Liver-Stagnation and Spleen-Deficiency Depression.

Study Title: Research on the therapeutic effect and clinical indicators of XingpiJieyu formula in the treatment of severe liver depression and spleen deficiency type depression based on abnormal mitochondrial energy metabolism pathway

Purpose of the Study: (1) Application of XPJYF in the treatment of severe MDD patients for 8 weeks, detection of abnormal mitochondrial energy metabolism and bio…

NCT07601685 — MERC Proteins in Saliva and GCF in Periodontal Disease (ELISA Study)

This observational cross-sectional study investigates the levels of mitochondria-endoplasmic reticulum contact site (MERC) proteins in saliva and gingival crevicular fluid (GCF) of individuals with different periodontal conditions. MERCs are specialized regions where mitochondria and the endoplasmic reticulum physically connect, and they play important roles in calcium signaling, oxidative stre…

NCT06498336 — miRNA in Septic Acute Kidney Injury

Acute kidney injury is a common and serious complication of sepsis and septic shock, which may be associated with a worse outcome of the patient’s condition. The exact pathophysiological mechanism of septic acute kidney injury remains a challenge. One of the possible causes appears to be endothelial dysfunction and mitochondrial damage of renal tubular cells. The aim of this study is to identif…

NCT06402123 — A Phase 2b Study of Zagociguat in Patients With MELAS

PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs. placebo when administered daily for 12 weeks in participants with genetically and phenotypically defined MELAS.

Other (Suspended)

NCT01148550 — Longitudinal Study of Mitochondrial Hepatopathies

The specific aims of this study are (1) to determine the clinical phenotypes and natural history of hepatic RC and FAO disorders, (2) to determine the correlation between genotype and phenotype, (3) to determine if circulating biomarkers reflect diagnosis and predict liver disease progression and survival with the native liver, (4) to determine the clinical outcome of these disorders following …

Other (Withdrawn)

NCT03302481 — Mitochondrial Metabolism and Hepatic Complications of Obesity

The study aims to characterize mitochondrial metabolism in the liver of obesity surgery patients and to study its relationships with hepatic steatosis, inflammation, and fibrosis.