Clinical trials: Subacute Necrotizing Encephalomyelopathy
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
Mitochondrial Diseases
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study…
- Trial name
- NCT02473445
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 22 people
- Sponsor
- Amgen
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.
Mitochondrial Diseases
EPI-743 for Mitochondrial Respiratory Chain Diseases
This study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.
- Trial name
- NCT01370447
- Testing
- EPI-743
- Where
- 16 sites in United States
- Sponsor
- PTC Therapeutics
Leigh Syndrome
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
- Trial name
- NCT02352896
- Testing
- EPI-743
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- PTC Therapeutics
Leigh Syndrome
ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
A phase 2a, open-label study to evaluate the safety, tolerability, and clinical activity of ABI-009 (nab-sirolimus) in patients with genetically-confirmed Leigh or Leigh-like syndrome
- Trial name
- NCT03747328
- Testing
- ABI-009
- Sponsor
- Aadi Bioscience, Inc.
Leigh Syndrome
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
- Trial name
- NCT01721733
- Testing
- EPI-743 15 mg/kg, EPI-743 5 mg/kg
- Where
- 4 sites in United States
- Volunteers
- 35 people
- Sponsor
- PTC Therapeutics
Leigh Syndrome
A Study of the Natural Course of SURF1 Deficiency
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency.
- Trial name
- NCT05277363
- Testing
- None (Observational study)
- Where
- United States
- Sponsor
- Taysha Gene Therapies, Inc.
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
Mitochondrial Diseases, Drug Resistant Epilepsy
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome
- Trial name
- MIT-E (NCT04378075)
- Testing
- Vatiquinone
- Where
- 27 sites in United States, Canada and 7 more
- Volunteers
- 68 people
- Sponsor
- PTC Therapeutics
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, 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