Clinical trials: Mitochondrial Myopathies
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
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 Myopathies
Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
Mitochondrial cytopathies are a heterogeneous group of rare inherited diseases characterized by primary mitochondrial dysfunction caused by a pathogenic mutation located either in nuclear DNA or mitochondrial DNA.
- Trial name
- MITOMYO (NCT07920562)
- Testing
- Analysis of signaling pathway : AMPK
- Where
- France
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
A Study to Assess TTI-0102 vs Placebo in MELAS Patients
This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of…
- Trial name
- NCT06644534
- Testing
- TTI-0102
- Where
- 2 sites in France, Netherlands
- Volunteers
- 9 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
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
Mitochondrial Diseases, Mitochondrial Encephalomyopathy
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy…
- Conditions
- Mitochondrial Diseases, Mitochondrial Encephalomyopathy, Mitochondrial Encephalopathy, Mitochondrial DNA Depletion
- Trial name
- dC-dT-MDS (NCT04802707)
- Testing
- deoxycytidine and deoxythymidine
- Where
- Canada
- Volunteers
- 200 people
- Sponsor
- Kenneth Myers, MD
Thymidine Kinase 2 Deficiency
A Study of the Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency (Treatment naïve)
This is a Phase 3b, prospective, single-arm, multicenter, open-label treatment study of the efficacy and safety of MT1621 in pediatric and adolescent patients with thymidine kinase 2 deficiency (TK2d).
- Trial name
- NCT04581733
- Testing
- MT1621
- Sponsor
- Zogenix MDS, Inc.
Mitochondrial Myopathy
Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy
Phase 1/2, multi-center, randomized, double-blind, multiple ascending dose, placebo-controlled study that enrolled 36 subjects with mitochondrial myopathy associated with genetically confirmed mitochondrial disease to evaluate…
- Trial name
- MMPOWER (NCT02367014)
- Testing
- elamipretide (low dose), elamipretide (intermediate dose), elamipretide (high dose)
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- Stealth BioTherapeutics Inc.
Mitochondrial Myopathies, Mitochondrial DNA Mutation
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks.
- Conditions
- Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy
- Trial name
- NCT05012358
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Mitochondrial Myopathies
Niacin Supplementation in Healthy Controls and Mitochondrial Myopathy Patients
The most frequent form of adult-onset mitochondrial disorders is mitochondrial myopathy, often manifesting with progressive external ophthalmoplegia (PEO), progressive muscle weakness and exercise intolerance.
- Trial name
- NiaMIT (NCT03973203)
- Testing
- Niacin
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Helsinki
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
MELAS Syndrome
Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)
This pilot clinical study evaluated the safety and metabolic responses to a licensed inactivated seasonal influenza vaccine (TIV) in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS)…
- Trial name
- NCT01831934
- Testing
- Fluzone®
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Stanford University
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENERGYC Study
This a randomized placebo controlled, double-blind phase II study to explore the pharmacokinetics, safety and efficacy of sonlicromanol in children (from birth to 17 years) with genetically confirmed mitochondrial disease of…
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, MELAS, Subacute Necrotizing Encephalomyelopathy
- Trial name
- NCT04846036
- Testing
- Sonlicromanol
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Khondrion BV
MELAS Syndrome, Ketogenic Dieting
Effectiveness of Ketogenic Diet in MELAS Syndrome
The goal of this clinical trial is to evaluate the effectiveness of ketogenic diet in patients with MELAS syndrome. The main questions it aims to answer are: Clarify the curative effects of ketogenic diet in the treatment of…
- Trial name
- NCT06013397
- Testing
- Ketogenic diet
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Evolution of Nutritional Status and Intestinal Function in Patients With MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare disease characterized by severe gastrointestinal and neurological dysfunction.
- Trial name
- SN-FI_MNGIE (NCT06784453)
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Mitochondrial Disease, Neurology
EPI-743 for Metabolism or Mitochondrial Disorders
Background: Mitochondria are the parts of cells that help produce energy. Metabolism is the process by which the body uses energy to help cells grow and reproduce.
- Conditions
- Mitochondrial Disease, Neurology, Myopathy
- Trial name
- NCT01642056
- Testing
- EPI-743
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Inherited Mitochondrial Disease
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical…
- Trial name
- NCT05218655
- Testing
- Vatiquinone
- Where
- 26 sites in United States, France and 5 more
- Volunteers
- 101 people
- Sponsor
- PTC Therapeutics
Primary Mitochondrial Disease
An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy.
- Trial name
- RePOWER (NCT03048617)
- Where
- 33 sites in United States, Australia and 7 more
- Volunteers
- 215 people
- Sponsor
- Stealth BioTherapeutics Inc.
Mitochondrial Myopathy
Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy
OBJECTIVES: I. Assess the efficacy of thioctic acid in treating a single patient with mitochondrial myopathy.
- Trial name
- NCT00004770
- Testing
- thioctic acid
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)