Clinical trials: Mitochondrial Disease
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Friedreich Ataxia
Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia
The purpose of this protocol is to determine the efficacy of EGb 761 120 mg bid versus placebo in patients suffering from Friedreich Ataxia
- Trial name
- NCT00824512
- Testing
- EGb 761 120 mg
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Ipsen
Leber Hereditary Optic Neuropathy
REALITY LHON Registry
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported…
- Trial name
- REALITY (NCT03295071)
- Testing
- Patient-reported outcomes (PROs)
- Where
- 11 sites in United States, France and 3 more
- Volunteers
- 44 people
- Sponsor
- GenSight Biologics
Friedreich Ataxia
A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)
This is a natural history study prospectively investigating neuroimaging markers of disease progression in children and adults with Friedreich ataxia (FA). There will be three assessment periods (baseline, 12 and 24 months).
- Trial name
- (TRACK-FA) (NCT04349514)
- Testing
- Natural history
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Monash University
Mitochondrial Disease
Development of a New Technique for Quantifying Mitochondrial DNA in Single Muscle Fibers
Mitochondrial diseases (MDs) are the most common metabolic disorders. Due to their great clinical and genetic heterogeneity, their diagnosis relies exclusively on the identification of pathogenic variants in nuclear genes or in…
- Trial name
- DIGITAL_MITO (NCT07511608)
- Testing
- Quantification of Mitochondrial DNA Heteroplasmy and Copy Number by Digital PCR in Mitochondrial Diseases
- Where
- 3 sites in France
- Volunteers
- 4 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Leber's Hereditary Optic Neuropathy
Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON]
Expanded access Protocol to treat LHON subjects with EPI743
- Trial name
- NCT02300753
- Testing
- EPI-743
- Where
- United States
- Sponsor
- Edison Pharmaceuticals Inc
Herpetic Keratitis
Topical Ganciclovir Versus Systemic Aciclovir in the Treatment of Herpetic Keratitis
Traditional antiviral treatments, including systemic acyclovir, have shown effectiveness in resolving keratitis but can also lead to complications, including ocular surface toxicity and the development of acyclovir-resistant…
- Trial name
- NCT06757907
- Testing
- Acyclovir 400 MG, Ganciclovir (GCV)
- Where
- Egypt
- Volunteers
- 20 people
- Sponsor
- Al-Azhar University
Diabetes Mellitus, Type 1, Monogenic Diabetes
Monogenic Diabetes Misdiagnosed as Type 1
The study has two aims: 1. To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection. 2.
- Conditions
- Diabetes Mellitus, Type 1, Monogenic Diabetes, Neonatal Diabetes, Maturity-onset Diabetes in the Young (MODY)
- Trial name
- ADDAM (NCT03988764)
- Testing
- None AHT
- Where
- Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
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
Friedreich Ataxia
Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia
This study will determine the highest amount of idebenone that can be taken without harmful side effects in children, teenagers, and adults with Friedreich's ataxia, a progressive degenerative disease that affects several body…
- Trial name
- NCT00078481
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Burn
Mitochondrial Oxidation and Insulin Resistance in Burn Patients Treated With Fenofibrate
Major burn injury causes significant insulin resistance on glucose and protein metabolism that persists for up to 6 months after the acute injury This project proposes to answer the following questions: 1.
- Trial name
- NCT00732485
- Testing
- fenofibrate
- Sponsor
- The University of Texas Medical Branch, Galveston
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
Leber Hereditary Optic Neuropathy (LHON)
A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
The objective of this clinical study is to evaluate the safety and efficacy of NR082 in the treatment of LHON caused by mitochondrial ND4 gene mutation.
- Trial name
- NCT07406854
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 95 people
- Sponsor
- Wuhan Neurophth Biotechnology Limited Company
Myocardial Injury, Cardiac Surgery
Effect of Cyclosporine and Remote Ischemic Preconditioning in Reperfusion Ischemia Injury on Tetralogy Fallot Patients With Correction Surgery
The study aimed to evaluate the combined effects of cyclosporine and remote ischemic preconditioning on MDA, calcium cytosol concentration, and mitochondrial edema in tetralogy Fallot patients undergoing corrective surgery.
- Trial name
- NCT05691764
- Testing
- Cyclosporin, remote ischemic preconditioning
- Where
- Indonesia
- Volunteers
- 40 people
- Sponsor
- Universitas Indonesia
Friedreich's Ataxia
Cardiac Output and Fatigue in Friedreich's Ataxia
This is a clinical trial examining to impact of aerobic training plus omaveloxolone in FRDA. Thirty individuals with FRDA will be recruited; 20 individuals will be on omaveloxolone treatment whereas the other ten individuals will…
- Trial name
- NCT07444333
- Testing
- Aerobic Exercise
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Scott Barbuto
Leber Hereditary Optic Neuropathy
RESCUE and REVERSE Long-term Follow-up
The goal of this clinical trial is to assess the long-term safety and efficacy of GS010, a gene therapy, and assess the quality of life in subjects with LHON due to the G11778A ND4 mitochondrial mutation and who were treated in…
- Trial name
- RESTORE (NCT03406104)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 62 people
- Sponsor
- GenSight Biologics
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
Healthy, Diabetes Mellitus Type 1
The Effect of Light Therapy on Cellular Energy and Oxidative Stress in Healthy Adults and Type 1 Diabetic Patients
The goal of this clinical trial is to evaluate the effects of low-level light therapy on cellular energy and oxidative stress in healthy adults and patients with Type 1 diabetes.
- Trial name
- PBM-T1D (NCT07833865)
- Testing
- Red and Near-Infrared Light Therapy Pad
- Where
- Iraq
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Thi-Qar
Mitochondrial Disease
Anesthetic Effects in Mitochondrial Disease
Summary. At the present, the investigators do not have the perfect anesthetic for mitochondrial patients. When possible, consideration should be given to the use of local anesthetics in small amounts.
- Trial name
- NCT01001585
- Testing
- sevoflurane
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- d sessler
Epilepsy, GLUT1DS1
Long-term Treatment With the Ketogenic Diet in Epilepsy
This study will provide a comprehensive assessment of long-term treatment with the ketogenic diet, a medical diet with high fat and low carbohydrate intake, focusing on safety and cardiovascular implications.
- Conditions
- Epilepsy, GLUT1DS1, PDH Deficiency
- Trial name
- NCT04646850
- Testing
- Color duplex ultrasound of the carotid arteries
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital