Clinical trials: Primary Mitochondrial Diseases, open to volunteers
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
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…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
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.
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
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
Thymidine Kinase 2 (TK2 ) Deficiency, Mitochondrial Myopathies
Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
The purpose of this clinical trial is to evaluate the efficacy and safety of Doxecitin and Doxribtimine (dC+dT) in adult participants with thymidine kinase 2 (TK2) deficiency attended in the Neuromuscular Unit of '12 de Octubre'…
- Trial name
- NCT06754098
- Testing
- Doxecitine and Doxribtimine
- Where
- Spain
- Volunteers
- 15 people
- Sponsor
- Cristina Domínguez González
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
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…
- Conditions
- Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
- Trial name
- KH176-301 (NCT06451757)
- Testing
- Sonlicromanol
- Where
- 10 sites in United States, Denmark and 5 more
- Volunteers
- 220 people
- Sponsor
- Khondrion BV
Mitochondrial Diseases
CrCest Study in Primary Mitochondrial Disease
The purpose of this study is to perform a "muscle phenotyping" magnetic resonance imaging (MRI) assessment in patients receiving clinical care at the Children's Hospital of Philadelphia (CHOP) for mitochondrial disease that is…
- Trial name
- NCT04734626
- Testing
- Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence
- Where
- United States
- Volunteers
- 230 people
- Sponsor
- Children's Hospital of Philadelphia
Pyruvate Dehydrogenase Complex Deficiency
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency.
- Trial name
- NCT06340685
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Jirair Krikor Bedoyan
PolG, Primary Mitochondrial Myopathy
Prospective Natural History Study of POLG Disease
The PIONEER study is a prospective, natural history study dedicated to characterizing the clinical progression of POLG-related disorders.
- Trial name
- PIONEER (NCT07775872)
- Where
- 21 sites in United States, Australia and 7 more
- Volunteers
- 300 people
- Sponsor
- The POLG Foundation
Migraine Disorders, Headache Disorders
Idebenone for the Preventive Treatment of Migraine
Idebenone improves energy metabolism similarly to Coenzyme Q10, which is effective in migraine prophylaxis. The investigators compare idebenone (90 mg/day, 270 mg/day) and placebo in 180 migraine patients in a double-blind…
- Trial name
- NCT04151472
- Testing
- 90mg Idebenone, 270mg Idebenone
- Where
- China
- Volunteers
- 180 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
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.
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Primary Biliary Cholangitis (PBC)
Early Diagnosis of Primary Biliary Cholangitis (PBC) in Patients With Positive Anti-Mitochondrial Antibodies (AMA) and Normal Alkaline Phosphatase (ALP)
The goal of this observational study is to achieve early diagnosis of Primary Biliary Cholangitis (PBC) in patients with positive Anti-Mitochondrial Antibodies (AMA) and Normal Alkaline Phosphatase (ALP) in adults aged 18-80…
- Trial name
- NCT07205874
- Where
- Spain
- Volunteers
- 80 people
- Sponsor
- Hospital Universitario La Paz
Mitochondrial Diseases
Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
The purpose of this study is to investigate if the study medicine, KL1333, is safe, well-tolerated and effective long-term in improving the symptoms of fatigue and impacts on daily living and functional capacity (physical…
- Trial name
- Falcon-OLE (NCT07514338)
- Testing
- Napazimone
- Where
- 23 sites in United States, Belgium and 7 more
- Volunteers
- 140 people
- Sponsor
- Pharming Technologies B.V.
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
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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