Clinical trials: Mitochondrial Disorder
Neurodevelopmental Disorders
Etiology and Early Diagnosis of Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.
- Trial name
- NCT02003170
- Where
- United States
- Volunteers
- 576 people
- Sponsor
- University of Arkansas
MELAS Syndrome
Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes
The purpose of this study is to compare the efficacy of two (2) different doses of idebenone with that of a placebo over a one month period on cerebral lactate concentration as measured by magnetic resonance spectroscopy.
- Trial name
- MELAS (NCT00887562)
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Michio Hirano
Lactic Acidosis, Metformin
Study On the Role of Mitochondrial Dysfunction in the Pathogenesis of Metformin-associated Lactic Acidosis
Metformin is the first line drug of choice for the treatment of type II diabetes. Lactic acidosis can develop as a side effect, especially when renal failure leads to drug accumulation.
- Trial name
- NCT00942123
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
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
Hepatocellular Carcinoma (HCC)
Circulating Tumor Mitochondrial DNA (ct-mtDNA) As a Biomarker for Hepatocellular Carcinoma Recurrence Surveillance
This is a prospective, observational, single-center study. The purpose of this study is to evaluate the efficacy of circulating tumor mitochondrial DNA (ct-mtDNA) in plasma as a biomarker for minimal residual disease (MRD)…
- Trial name
- CCGLC-015 (NCT06653062)
- Testing
- Plasma and Tumor Tissue Mitochondrial DNA (mtDNA) Mutation Analysis
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Tongji Hospital
Severe Acute Pancreatitis
Relationship Between Acute Severe Pancreatitis and Mitochondrial DNA
Plasma mtDNA analysis aids in predicting pancreatic necrosis in severe acute pancreatitis patients.After the onset of severe acute pancreatitis, pancreatic necrosis and the content of mtDNA in plasma will increase, showing a…
- Trial name
- NCT04079777
- Testing
- Clinical treatment
- Where
- China
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- First People's Hospital of Chenzhou
Friedreich's Ataxia
Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia
The purpose of this study is to examine the effects of EPI-743 on visual function and neurologic function in patients with Friedreich's ataxia.
- Trial name
- NCT01728064
- Testing
- EPI-743 400 mg, EPI-743 200 mg
- Where
- 3 sites in United States
- Volunteers
- 60 people
- Sponsor
- PTC Therapeutics
Cytomegalovirus Infections, HIV Infections
A Study of AZT Plus Ganciclovir in Patients With AIDS and Cytomegalovirus (CMV) Infection
To evaluate the clinical and laboratory toxicity of ganciclovir (GCV) and zidovudine (AZT) when given in combination. Because recent information has shown AZT to be useful in treating AIDS, it is assumed that most patients with…
- Trial name
- NCT00000995
- Testing
- Zidovudine, Ganciclovir
- Where
- 3 sites in United States
- Volunteers
- 60 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Irritable Bowel Syndrome, Digestive System Diseases
Abnormal Expression Proteins, Mitochondrial DNA and miRNA of Irritable Bowel Syndrome
In the investigators study, the investigators will focus on the screening of the related proteins and miRNA to IBS in order to reveal the possible clues or molecular mechanism for this disorder.
- Conditions
- Irritable Bowel Syndrome, Digestive System Diseases, Gastrointestinal Diseases, Intestinal Diseases
- Trial name
- IBS (NCT01028898)
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Chinese PLA General Hospital
Myopathy, HMG COA Reductase Inhibitor Adverse Reaction
Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
It is our primary hypothesis that statin drugs impair skeletal muscle mitochondrial function and that ubiquinol (the reduced active form of CoQ10) supplementation will block impairment of PCr recovery kinetics in patients using…
- Conditions
- Myopathy, HMG COA Reductase Inhibitor Adverse Reaction, Hypercholesterolemia
- Trial name
- NCT01702987
- Testing
- ubiquinol, statin
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Beth Israel Deaconess Medical Center
Progressive Supranuclear Palsy
Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear Palsy
Studies have shown that alpha-lipoic acid and L-acetyl carnitine may have some neuroprotective activities and it is hoped that they could be helpful for people with neurodegenerative illnesses such as progressive supranuclear…
- Trial name
- NCT01537549
- Testing
- alpha-lipoic acid and L-acetyl carnitine
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Weill Medical College of Cornell University
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
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
Leber's Hereditary Optic Neuropathy (LHON)
Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)
The purpose of this survey is to collect visual acuity data from patients with LHON in order to establish the clinical course (natural history) and visual acuity outcomes in patients with a genetically confirmed diagnosis of…
- Trial name
- NCT02796274
- Where
- 21 sites in Belgium, France and 5 more
- Volunteers
- 219 people
- Sponsor
- Santhera Pharmaceuticals
Inclusion Body Myositis, Myotonic Dystrophy 1
The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb…
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy 1, Myotonic Dystrophy 2, Facio-Scapulo-Humeral Dystrophy
- Trial name
- Risk of fall (NCT07072676)
- Testing
- Assistive gait devices combined with physiotherapy
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- LMU Klinikum
Mitochondrial Diseases, Diabetes-Deafness Syndrome Maternally Transmitted
MItochondrial Diabetes LOw Carb- Diet Study
In daily practice, doctors and dietitians in the clinic receive many questions in general from patients with a Mitochondrial Disease (MD), and more specific whether nutritional changes can alleviate their symptoms.
- Trial name
- MIDLOC (NCT06185790)
- Testing
- LCHF diet
- Where
- Netherlands
- Volunteers
- 17 people
- Sponsor
- Radboud University Medical Center
Diabetes, Obese
PGC-1 and Mitochondrial Dysfunction in Diabetes
The purpose of this study is determine if you have too much fat in your body that it will decrease the conversion of food energy into energy that your body can use.
- Trial name
- NCT01724515
- Testing
- Lipid infusion and muscle biopsies
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Nasopharyngeal Carcinoma
Study of Cytolytic Viral Activation Therapy (CVAT) for Recurrent/Metastatic Nasopharyngeal Carcinoma
Nasopharyngeal carcinoma (NPC) is an Epstein-Barr virus(EBV) related malignancy and is an endemic disease in Southeast Asian countries.
- Trial name
- NCT02761291
- Testing
- Gemcitabine, Valproic acid, Valganciclovir
- Where
- Taiwan
- Volunteers
- 18 people
- Sponsor
- Chang Gung Memorial Hospital
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in…
- Conditions
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
- Trial name
- NCT01780168
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Metabolic Diseases
Hepatocyte Transplantation for Liver Based Metabolic Disorders
The purpose of this research study is to determine whether partial irradiation of the liver and liver cell transplantation can provide help for patients with life-threatening liver-based metabolic diseases who are unlikely to…
- Trial name
- NCT01345578
- Testing
- human hepatocyte transplantation, Preparative Radiation Therapy
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Ira Fox