Clinical trials: Mitochondrial Disease
Polymyositis, Dermatomyositis
Allogeneic Mitochondria (PN-101) Transplantation for Refractory Polymyositis or Dermatomyositis
To determine the maximum tolerated dose (MTD) based on the safety and tolerability after single-dose administration of PN-101 in patients with refractory polymyositis or dermatomyositis.
- Trial name
- NCT04976140
- Testing
- PN-101
- Where
- 3 sites in South Korea
- Volunteers
- 9 people
- Sponsor
- Paean Biotechnology Inc.
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
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD
The main goal of this study is to evaluate the effects of triheptanoin versus Medium-chain Triglycerides (MCT) on frequency of Major Clinical Events (MCEs).
- Trial name
- NCT05933200
- Testing
- Triheptanoin, MCT Oil
- Where
- 15 sites in Czechia, Germany and 5 more
- Volunteers
- 69 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Friedreich's Ataxia
A Study to Learn More About Friedrich's Ataxia in People Living in the Gulf Cooperation Council (GCC) Region of the World
In this study, researchers will learn more about a disease called Friedrich's Ataxia, also known as FA. This is known as an "observational" study, which collects health information about study participants without changing their…
- Trial name
- NCT07887828
- Volunteers
- 40 people
- Sponsor
- Biogen
Leber's Hereditary Optic Neuropathy
Expanded Access Program for Idebenone in Patients With Leber's Hereditary Optic Neuropathy Who Completed the LEROS Study
Expanded Access Program for Idebenone in Patients with Leber's Hereditary Optic Neuropathy who completed the LEROS Study
- Trial name
- US EAP LHON (NCT04381091)
- Testing
- Idebenone 150 MG Oral Tablet
- Sponsor
- Santhera Pharmaceuticals
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.
Myelodysplastic Syndromes
A Study to Evaluate the MNV-201 in Patients With Low Risk MDS
Myelodysplastic syndromes (MDS) are a group of bone marrow failures that occur when the blood-forming cells in the bone marrow become abnormal leading to an abnormal differentiation and production of one or more blood cell types.
- Trial name
- NCT06465160
- Testing
- MNV-201 (Autologous CD34+ Cells Enriched with allogenic Placenta Derived Mitochondria)
- Where
- Israel
- Volunteers
- 15 people
- Sponsor
- Minovia Therapeutics Ltd.
Cytomegalovirus Retinitis, HIV Infections
A Phase I/II Trial to Assess the Safety and Tolerance of Escalating Doses of a Human Anti-Cytomegalovirus Monoclonal Antibody (SDZ MSL-109) in Patients With the Acquired Immunodeficiency Syndrome and CMV Retinitis
To determine the safety and tolerance of 3 dosage levels of human anti-cytomegalovirus (CMV) monoclonal antibody (SDZ MSL-109) when administered once every 2 weeks for a total of 8 doses during the maintenance phase of…
- Trial name
- NCT00002016
- Testing
- Sevirumab
- Where
- 2 sites in United States
- Sponsor
- Sandoz
Friedreich Ataxia
Study to Evaluate DT-216 in Adult Patients With Friedreich Ataxia
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic and pharmacodynamic effects of intravenous DT-216 in adult patients with Friedreich Ataxia.
- Trial name
- NCT05285540
- Testing
- DT-216
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- Design Therapeutics, Inc.
Friedreich Ataxia
An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia
An open label study designed to evaluate the safety, PK, PD, and clinical effects of long-term daily administration of CTI-1601 enrolling adolescent and adult patients with FRDA who have participated in a prior clinical study of…
- Trial name
- NCT06447025
- Testing
- CTI-1601
- Where
- 10 sites in United States
- Volunteers
- 85 people
- Sponsor
- Larimar Therapeutics, Inc.
Friedreich Ataxia
A Study to Find Out How BIIB141 (Omaveloxolone) is Processed in the Body and to Learn More About Its Safety in Participants With Friedreich's Ataxia Aged 2 to 15 Years Old
In this study, researchers will learn more about BIIB141, also known as omaveloxolone or SKYCLARYS®. This drug has been approved, or made available for doctors to prescribe, for people with Friedrich's Ataxia (FA) who are at…
- Trial name
- BOLD (NCT06054893)
- Testing
- Omaveloxolone
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Biogen
Friedreich Ataxia
A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia
The primary objective of the study is to evaluate the efficacy (using the modified Friedreich Ataxia Rating Scale [mFARS]) and safety of vatiquinone in participants with Friedreich ataxia (FA).
- Trial name
- MOVE-FA (NCT04577352)
- Testing
- Vatiquinone
- Where
- 14 sites in United States, Australia and 7 more
- Volunteers
- 146 people
- Sponsor
- PTC Therapeutics
Diabete Type 2, Obesity
Ph 2a Study of HU6 on Energy Metabolism, Muscle and Liver Substrate Metabolism, and Mitochondrial Function in Subjects Who Are Overweight or Obese With Type 2 Diabetes
This is a randomized, double-blind, placebo-controlled parallel group study of HU6 and placebo in subjects who are overweight or obese with T2D. The study will be conducted in 4 stages.
- Trial name
- NCT06104358
- Testing
- HU6
- Where
- United States
- Sponsor
- Rivus Pharmaceuticals, Inc.
Mitochondrial Diseases
RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease
The objective of the study is to determine the safety and tolerability of RG2133 in patients with Mitochondrial Disease.
- Trial name
- NCT00060515
- Testing
- RG2133 (2',3',5'-tri-O-acetyluridine)
- Volunteers
- 12 people
- Sponsor
- Repligen Corporation
Friedreich's Ataxia
A First in Human Study of RT001 in Patients With Friedreich's Ataxia
The purpose of this study is to evaluate the safety, tolerability and pharmacokinetics of RT001 in patients with Friedreich's ataxia.
- Trial name
- NCT02445794
- Testing
- Low dose cohort, High dose cohort
- Where
- 2 sites in United States
- Volunteers
- 19 people
- Sponsor
- Biojiva LLC
Idiopathic Infertility, Infertility Unexplained
Biological Aging Hallmarks-Guided Integrative TCM and Conventional Medicine in Post-Treatment Unexplained Female Infertility
The goal of this clinical trial is to determine whether telomere profiling and other biological aging hallmarks can help identify underlying mechanisms of persistent infertility in women with post-treatment unexplained…
- Conditions
- Idiopathic Infertility, Infertility Unexplained, Infertility (IVF Patients), Infertility Assisted Reproductive Technology
- Trial name
- TECMI (NCT07404969)
- Testing
- 1. Aging Hallmarks Biomarker Profiling (Telomere-Based), 2. Integrative Botanical and Nutraceutical Intervention, 3. Natural Conception or Assisted Reproductive Technologies
- Where
- Switzerland
- Volunteers
- 15 people
- Sponsor
- BEYOND GENOMiX SA, AG, Ltd
Friedreich's Ataxia
Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study
The purpose of this phase 3 multi-center, open-label extension study is to evaluate the long-term safety of ACTIMMUNE® (interferon-γ 1b) in participants with Friedreich's Ataxia.
- Trial name
- STEADFAST (NCT02593773)
- Testing
- Interferon γ-1b
- Where
- 4 sites in United States
- Volunteers
- 86 people
- Sponsor
- Amgen
Friedreich Ataxia
A Single Ascending Dose Study of DT-216P2 in Normal Healthy Participants
This purpose of the study is to evaluate the safety, tolerability and pharmacokinetics of single ascending doses of DT-216P2 administered either subcutaneously (SC) and intravenously (IV) in normal healthy participants.
- Trial name
- NCT06772870
- Testing
- DT-216P2, Saline
- Where
- Australia
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Design Therapeutics, Inc.
Cytomegalovirus Infections, HIV Infections
A Multiple Dose Crossover Pharmacokinetics Study to Evaluate the Effects of Food on the Absorption of Oral Ganciclovir
This study is designed to determine the influence of food on the absorption and relative bioavailability of oral ganciclovir by comparing the absorption of oral ganciclovir in a fed and fasting state at steady state plasma levels.
- Trial name
- NCT00002251
- Testing
- Ganciclovir
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Hoffmann-La Roche