Clinical trials: Leigh Syndrome, active
Leigh Syndrome
Sirolimus for Leigh Syndrome
The purpose of this study is to evaluate the safety and efficacy of the drug Sirolimus in participants with Leigh syndrome.
- Trial name
- NCT06843811
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Matthew Demczko
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
Leigh Syndrome
A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
The goal of this clinical trial is to investigate oral TTI-0102 to evaluate its pharmacokinetics, safety, and preliminary efficacy in patients with Leigh syndrome spectrum, in three sequences.
- Trial name
- NCT06990984
- Testing
- TTI-0102: cysteamine-pantetheine disulfide, D-Mannitol
- Volunteers
- 18 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR)
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and…
- Trial name
- cureMILS (NCT06967831)
- Testing
- skin biopsy, generation of iPSCs, blood drawing
- Where
- 2 sites in Germany
- Volunteers
- 80 people
- Sponsor
- Charite University, Berlin, Germany
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
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)
Leigh Syndrome, Leigh Disease
The International Registry for Leigh Syndrome
The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome.
- Conditions
- Leigh Syndrome, Leigh Disease, Leigh's Necrotizing Encephalopathy, Subacute Necrotizing Encephalomyopathy
- Trial name
- NCT03137355
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- The University of Texas Health Science Center, Houston
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
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