Clinical trials: Mitochondrial DNA Mutation
Healthy Subjects, Leber Hereditary Optic Neuropathy
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Leber hereditary optic neuropathy (LHON), due to mitochondrial DNA (mtDNA) mutations, is responsible for profound visual impairment. However, there is evidence that optic nerve damage begins before vision declines.
- Trial name
- MétabOCT (NCT06682819)
- Testing
- Optical coherent tomography
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hôpital Necker-Enfants Malades
MELAS Syndrome, Mitochondrial Respiratory Chain Deficiencies
Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers
The purpose of this First In Human study is to investigate the safety and tolerability of KL1333 after a single oral dose and to investigate the pharmacokinetic characteristics of KL1333 after a single oral dose.
- Trial name
- NCT03056209
- Testing
- KL1333 25 mg, KL1333 50 mg, KL1333 100 mg
- Where
- South Korea
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Yungjin Pharm. Co., Ltd.
Mitochondrial DNA Mutation, Endoscopy
Multimodal Imaging Based on Pathological and Genomic Characteristics
Mitochondrial DNA mutations in normal gastric tissue, early gastric cancer and advanced gastric cancer were identified by single cell sequencing, and the origin of gastric stem cells was traced and new molecular markers were…
- Trial name
- NCT05196243
- Testing
- Patients diagnosed as gastrointestinal mucosal lesions
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Affiliated Hospital to Academy of Military Medical Sciences
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms.
- Trial name
- NCT01532791
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial Disorders, Li-Fraumeni Syndrome
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer.
- Conditions
- Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
- Trial name
- NCT00406445
- Where
- United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV