Clinical trials: Mitochondrial Disease
Friedreich Ataxia
Micronised Resveratrol as a Treatment for Friedreich Ataxia
The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.
- Trial name
- NCT03933163
- Testing
- Resveratrol
- Where
- 4 sites in Australia
- Volunteers
- 25 people
- Sponsor
- Murdoch Childrens Research Institute
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
Cystinosis, Native Kidney
Cystinosis and Mitochondrial Metabolism
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear…
- Trial name
- CYSTI-MITO (NCT07319091)
- Testing
- Mitochondrial metabolism
- Where
- 9 sites in France
- Volunteers
- 25 people
- Sponsor
- Hospices Civils de Lyon
Mitochondrial Diseases
DNA QUANTIFICATION TECHNIQUE AS A INTERPRETATION TOOL IN MITOCHONDRIAL DISEASES
2622/5000 Mitochondrial diseases (MM) are the most common metabolic diseases. Since these pathologies are very heterogeneous in clinical terms, only the identification of mutations in nuclear genes or mitochondrial DNA confirms…
- Trial name
- NCT03216252
- Testing
- samples
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Friedreich's Ataxia
(+) Epicatechin to Treat Friedreich's Ataxia
This 24-week study will test the safety and effectiveness of synthetically produced (+) Epicatechin in treating patients who have Friedreich's Ataxia, a neurological disorder.
- Trial name
- NCT02660112
- Testing
- (+)-Epicatechin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Ralitza Gavrilova
Cytomegalovirus Infections
Valganciclovir in Congenital CMV Infants
The purpose of this study is to evaluate how ganciclovir is metabolized when administered intravenously (by a needle inserted into a vein) following valganciclovir syrup, given by mouth to newborns and young infants with symptoms…
- Trial name
- NCT00031434
- Testing
- Valganciclovir, Ganciclovir
- Where
- 21 sites in United States
- Volunteers
- 24 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Autism Spectrum Disorder, Autism
Mitochondrial Dysfunction in Autism Spectrum Disorder
Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves up to 5 visits to Arkansas Children's Hospital with fasting blood draws…
- Conditions
- Autism Spectrum Disorder, Autism, Mitochondrial Disease, Developmental Delay
- Trial name
- Mito (NCT02000284)
- Where
- United States
- Volunteers
- 297 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
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'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
Dilated Cardiomyopathy
Examining the Effects of Mitochondrial Oxidative Stress in DCM
Double blind, randomised, placebo-controlled trial of MitoQ (mitoquinol mesylate) in 106 patients with dilated cardiomyopathy, examining the effect of reducing mitochondrial oxidative stress on myocardial energetics and…
- Trial name
- MitoDCM (NCT05410873)
- Testing
- MitoQ Compound
- Where
- United Kingdom
- Volunteers
- 53 people
- Sponsor
- Imperial College London
Leber Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Mitochondrial Disease
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Background: Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life.
- Trial name
- NCT04419870
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Acute Liver Failure, Mitochondrial Diseases
Longitudinal Study of Mitochondrial Hepatopathies
The specific aims of this study are (1) to determine the clinical phenotypes and natural history of hepatic RC and FAO disorders, (2) to determine the correlation between genotype and phenotype, (3) to determine if circulating…
- Conditions
- Acute Liver Failure, Mitochondrial Diseases, End Stage Liver Disease, Respiratory Chain Deficiencies, Mitochondrial
- Trial name
- MITOHEP (NCT01148550)
- Where
- 16 sites in United States, Canada
- Volunteers
- 90 people
- Sponsor
- Arbor Research Collaborative for Health
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
Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR)
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and…
- Trial name
- cureMILS (NCT06967831)
- Testing
- skin biopsy, generation of iPSCs, blood drawing
- Where
- 2 sites in Germany
- Volunteers
- 80 people
- Sponsor
- Charite University, Berlin, Germany
Mitochondrial Diseases, Diagnosis
Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
Mitochondrial diseases are a heterogeneous group caused by genetic defects in mitochondrial DNA or in nuclear genes. POLG is the most frequently involved gene in mtDNA instability diseases resulting in mtDNA multiple deletion…
- Conditions
- Mitochondrial Diseases, Diagnosis, DNA Mutations
- Trial name
- NCT00831948
- Testing
- mitochondrial DNA mutations diagnosis
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire de Nice