Clinical trials: Mitochondrial Myopathies
- Condition Mitochondrial Myopathies
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
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.
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 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
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.
Primary Mitochondrial Disease
Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
This randomized, double-blind, placebo-controlled, crossover study screened 32 subjects with primary mitochondrial myopathy (PMM) to evaluate the safety, tolerability, pharmacokinetics (PK), and efficacy of subcutaneous…
- Trial name
- MMPOWER-2 (NCT02805790)
- Testing
- Elamipretide
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Stealth BioTherapeutics Inc.
Primary Mitochondrial Myopathy
A Trial to Evaluate Safety and Efficacy of Elamipretide Primary Mitochondrial Myopathy Followed by Open-Label Extension
This is a multicenter phase 3 randomized, double-blind, parallel-group, placebo-controlled trial to evaluate the safety and efficacy of daily subcutaneous injections of elamipretide in subjects with primary mitochondrial…
- Trial name
- MMPOWER-3 (NCT03323749)
- Testing
- elamipretide, elamipretide open label treatment
- Where
- 27 sites in United States, Canada and 5 more
- Volunteers
- 218 people
- Sponsor
- Stealth BioTherapeutics 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
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
PolG, Primary Mitochondrial Myopathy
Mitochondrial Video Assessment Source Material Study
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
- Trial name
- NCT06180421
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The Emmes Company, LLC
Thymidine Kinase 2 Deficiency
A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency
This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).
- Trial name
- NCT05017818
- Testing
- Observational retrospective data
- Where
- 12 sites in United States, Russia and 2 more
- Volunteers
- 61 people
- Sponsor
- Zogenix MDS, Inc.
Primary Mitochondrial Disease
Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
This is a Phase 2 Open-Label extension study to evaluate the long term safety and tolerability of daily elamipretide injections in patients with genetically confirmed Primary Mitochondrial Disease who previously participated in…
- Trial name
- NCT02976038
- Testing
- elamipretide
- Where
- 4 sites in United States
- Volunteers
- 28 people
- Sponsor
- Stealth BioTherapeutics Inc.
Primary Mitochondrial Myopathy
A Study of the Safety of REN001 in Patients With Primary Mitochondrial Myopathy
The purpose of this study is to assess REN001 safety in subjects with primary mitochondrial myopathy
- Trial name
- NCT03862846
- Testing
- REN001
- Where
- 2 sites in United Kingdom
- Volunteers
- 23 people
- Sponsor
- Reneo Pharma Ltd
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)
The goal of this clinical trial is to evaluate the long-term safety and tolerability of zagociguat in patients with MELAS who completed study medication treatment in the lead-in study TIS6463-203.
- Trial name
- NCT06961344
- Testing
- zagociguat 15mg
- Where
- 16 sites in United States, Australia and 3 more
- Volunteers
- 37 people
- Sponsor
- Tisento Therapeutics
Thymidine Kinase 2 Deficiency
An Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With TK2 Deficiency
This is a Phase 2 prospective open-label treatment study of the safety and efficacy of doxecitine and doxribtimine in study participants with thymidine kinase 2 (TK2) deficiency who participated in the retrospective study…
- Trial name
- Continuation (NCT03845712)
- Testing
- doxecitine and doxribtimine
- Where
- 8 sites in United States, Israel and 1 more
- Volunteers
- 47 people
- Sponsor
- UCB BIOSCIENCES, Inc.
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
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