Clinical trials: Mitochondrial Disease
Carcinoma, Non-Small-Cell Lung, Neoplasms
A Dose-Finding Study of the Second Mitochondrial Activator of Caspases (SMAC) Mimetic Debio 1143 When Given in Combination With Avelumab to Participants With Advanced Solid Malignancies and to Participants With Advanced or Metastatic Non-Small Cell Lung Cancer (NSCLC) After Platinum-Based Therapy
The study is primarily designed to assess the safety and tolerability of escalating oral doses of Debio 1143 and preliminary anti-tumour activity when combined with the standard dose of avelumab in participants with advanced…
- Trial name
- NCT03270176
- Testing
- Debio 1143, Avelumab
- Where
- 9 sites in Canada, Poland and 1 more
- Volunteers
- 54 people
- Sponsor
- Debiopharm International SA
Leber Hereditary Optic Neuropathy (LHON)
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey
The objective of this survey is to establish the clinical course of vision loss and recovery in patients with a genetically confirmed diagnosis of Leber Hereditary Optic Neuropathy (LHON).
- Trial name
- NCT01892943
- Where
- 8 sites in Belgium, Denmark and 3 more
- Volunteers
- 306 people
- Sponsor
- Santhera Pharmaceuticals
Cytomegalovirus Retinitis, HIV Infections
A Randomized Comparison of Intravitreal ISIS 2922 Plus Ganciclovir Versus Ganciclovir as Treatment for Patients With Cytomegalovirus Retinitis ( CMVR )
To determine the clinically safe and effective dose of intravitreal ISIS 2922 alone and as an additive antiviral therapy to ganciclovir in AIDS patients with cytomegalovirus (CMV) retinitis.
- Trial name
- NCT00002156
- Testing
- Fomivirsen sodium, Ganciclovir
- Where
- 18 sites in United States
- Volunteers
- 194 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Friedreich Ataxia
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential…
- Trial name
- NCT04255680
- Testing
- Buccal Swabs and Blood Draws
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Larimar Therapeutics, Inc.
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Friedreich's Ataxia
GV101 for Friedreich's Ataxia (FA) Treatment
This is a dose-ranging, randomized, double-blind, placebo-controlled 12-week Phase 2a trial with an up to two week loading dose period.
- Trial name
- NCT07870590
- Testing
- GV101
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Graviton Bioscience Corporation
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
- Conditions
- Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
- Trial name
- NCT06140329
- Where
- 7 sites in United States, Australia and 4 more
- Volunteers
- 1 people
- Sponsor
- PYC Therapeutics
Leber Hereditary Optic Neuropathy
Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
The goal of this clinical trial is to assess the efficacy and safety of GS010 gene therapy - (lenadogene nolparvovec) in subjects with LHON due to the G11778A ND4 mitochondrial mutation with a vision loss up to one year.
- Trial name
- REFLECT (NCT03293524)
- Testing
- GS010
- Where
- 13 sites in United States, Belgium and 5 more
- Volunteers
- 98 people
- Sponsor
- GenSight Biologics
Friedreich Ataxia
Multiple Ascending Dose Study of CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia
To evaluate the safety and tolerability of multiple ascending doses of CTI-1601 in participants with Friedreich's ataxia
- Trial name
- NCT04519567
- Testing
- CTI-1601
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Larimar Therapeutics, Inc.
Friedreich's Ataxia
Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia
The purpose of this phase 3 randomized, multi-center, double-blind, placebo-controlled study is to evaluate the efficacy and safety of ACTIMMUNE® (interferon-γ 1b) in the treatment of Friedreich's Ataxia (FA) and to evaluate the…
- Trial name
- STEADFAST (NCT02415127)
- Testing
- Interferon γ-1b
- Where
- 4 sites in United States
- Volunteers
- 92 people
- Sponsor
- Amgen
Polymyositis, Dermatomyositis
Phase 2 Trial to Evaluate the Efficacy, Safety of Allogeneic Mitochondria (PN-101) in Patients With Refractory Polymyositis or Dermatomyositis
The efficacy of PN-101 in subjects with polymyositis or dermatomyositis will be evaluated at Week 12 using IMACS-TIS in comparison with the placebo control group.
- Trial name
- NCT07122648
- Testing
- PN-101
- Where
- 5 sites in South Korea
- Volunteers
- 36 people
- Sponsor
- Paean Biotechnology Inc.
Cytomegalovirus Retinitis, HIV Infections
A Randomized Study Comparing the Safety and Efficacy of Two Regimens of Oral Ganciclovir to Intravenous Ganciclovir Maintenance Therapy for Cytomegalovirus Retinitis in People With AIDS Who Have Received Prior Ganciclovir Therapy
To compare the safety and tolerance of oral ganciclovir at a double dose 3 times/day or a single dose 6 times/day to IV ganciclovir given for 20 weeks of maintenance therapy.
- Trial name
- NCT00002247
- Testing
- Ganciclovir
- Where
- 20 sites in United States, Canada
- Volunteers
- 225 people
- Sponsor
- Hoffmann-La Roche
Colitis, HIV Infections
A Study of Ganciclovir in the Treatment of Cytomegalovirus of the Large Intestine in Patients With AIDS
To attempt to demonstrate the efficacy of ganciclovir (DHPG) treatment of cytomegalovirus (CMV) colitis in AIDS patients by evaluating both clinical and virologic parameters.
- Trial name
- NCT00002273
- Testing
- Ganciclovir
- Where
- United States
- Sponsor
- Hoffmann-La Roche
Friedreich's Ataxia
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM).
- Trial name
- NCT02840669
- Testing
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiography (ECHO)
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Adverum Biotechnologies, Inc.
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
Primary Open-Angle Glaucoma (POAG)
MEXIDOL® Sequential Therapy of Patients With Primary Open-angle Glaucoma (POAG)
Hypothesis: The use of neurocytoprotectors helps restore the functional activity of mitochondria, improve the nervous activity of the retina and optic nerve, and stabilize the glaucomatous process.
- Trial name
- NCT06437639
- Testing
- Mexidol
- Where
- Russia
- Volunteers
- 80 people
- Sponsor
- Pharmasoft
Cytomegalovirus Infections, HIV Infections
Ganciclovir: Compassionate Use in Patients With Serious or Life-Threatening Cytomegalovirus Infections
To provide ganciclovir on a compassionate use basis to immunocompromised patients with serious cytomegalovirus (CMV) infections and to study safety and efficacy in this patient population.
- Trial name
- NCT00002024
- Testing
- Ganciclovir
- Where
- United States
- Sponsor
- Hoffmann-La Roche
Friedreich Ataxia
NAD+ Precursor Supplementation in Friedreich's Ataxia
The primary objective is to test the safety and tolerability of short-term therapy with a nicotinamide adenine dinucleotide (NAD+) precursor (MIB-626) in adults with Friedreich's Ataxia (FA) without overt heart failure and with a…
- Trial name
- NCT04817111
- Testing
- MIB-626
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Metro International Biotech, LLC
OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy
Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle)
This study aims to gather safety data and determine the optimal dosing regimen for PYC-001 in participants with confirmed OPA1 mutation-associated ADOA.
- Conditions
- OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy, Hereditary Optic Atrophies, Kjer Optic Atrophy
- Trial name
- PYC-001-CL-102 (NCT06970106)
- Testing
- PYC-001
- Where
- 3 sites in Australia, New Zealand
- Volunteers
- 24 people
- Sponsor
- PYC 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