Clinical trials: Mitochondrial Disorder
Hereditary Transthyretin Amyloidosis
Exploring Biomarkers in Hereditary Transthyretin Amyloidosis
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous systemic condition due to mutations in the transthyretin (TTR) gene.
- Trial name
- ELBA (NCT05929209)
- Testing
- Assessment of disease biomarkers
- Where
- Italy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of…
- Conditions
- Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
- Trial name
- KH176-301 (NCT06451757)
- Testing
- Sonlicromanol
- Where
- 10 sites in United States, Denmark and 5 more
- Volunteers
- 220 people
- Sponsor
- Khondrion BV
Huntington's Disease
Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E)
Huntington's disease (HD) is a slowly progressive disorder that devastates the lives of those affected and their families. There are no treatments that slow the progression of HD, only mildly effective symptomatic therapies are…
- Trial name
- CREST-E (NCT00712426)
- Testing
- Creatine Monohydrate
- Where
- 47 sites in United States, Australia and 2 more
- Volunteers
- 553 people
- Sponsor
- Massachusetts General Hospital
Cytomegalovirus Retinitis, HIV Infections
An Open-Label Safety Study of Oral Ganciclovir Maintenance Treatment of CMV Retinitis in People With Limited Venous Access
To provide oral ganciclovir to patients who require maintenance for control of cytomegalovirus (CMV) retinitis, but who lack patent permanent central venous access for long-term administration of intravenous drugs.
- Trial name
- NCT00002135
- Testing
- Ganciclovir
- Where
- United States
- Sponsor
- Hoffmann-La Roche
Infection Viral, Uveitis, Posterior
High-dose Intravitreal Injection of Ganciclovir for the Treatment of CMVR in HIV-negative Patients
This prospective, non-randomized, non-controlled clinical trial was conducted to examine the clinical outcomes achieved by using initial high-dose intravitreal ganciclovir injections of ganciclovir in treating cytomegalovirus…
- Trial name
- NCT03598452
- Testing
- Ganciclovir
- Volunteers
- 33 people
- Sponsor
- Aier School of Ophthalmology, Central South University
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.
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Mitochondrial Myopathies, Mitochondrial Diseases
Exercise-mediated Rescue of Mitochondrial Dysfunctions Driving Insulin Resistance
The overarching aim of this intervention study is to interrogate the interconnection between the muscle mitochondrial adaptations and the changes in muscle insulin sensitivity elicited by exercise training in individuals…
- Conditions
- Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders
- Trial name
- EX-MITO-DYS-IR (NCT06080594)
- Testing
- High-intensity exercise training
- Where
- Denmark
- Volunteers
- 11 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Antioxidative Stress, End Stage Renal Disease on Dialysis
A Novel Role of Alpha Lipoic Acid in Comparison With Selenium in Mitochondrial Resuscitation and miRNA-126 Expression in Hemodialysis Patients
An Open labeled, Paralled, Randomized, Prospective, study was conducted on 60 patients who were randomized into 3 groups, 22, 20 and 18 patients in Control, Selenium and, Thiotacid groups respectively.
- Trial name
- NCT05266794
- Testing
- Alpha lipoic acid, Selenium
- Where
- Egypt
- Volunteers
- 68 people
- Sponsor
- Ain Shams University
Friedreich Ataxia, Cardiomyopathy
Clinical Course Of Disease In Participants With FA-CM
Characteristics and clinical course of disease In participants with cardiomyopathy associated with Friedreich Ataxia (CLARITY-FA)
- Trial name
- NCT06865482
- Where
- 19 sites in United States, Brazil and 6 more
- Volunteers
- 65 people
- Sponsor
- Lexeo Therapeutics
Type II Diabetes Mellitus
Effect of Pioglitazone on Mitochondrial Function in Muscle and Adipose Tissue in Humans
Mitochondrial dysfunction in skeletal muscle results in decreased muscle fatty acid oxidation, leading to conversion of fatty acids into triglycerides and its accumulation inside the muscle tissue.
- Trial name
- PIO (NCT01165190)
- Testing
- pioglitazone
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Arizona State University
Renal Failure, Coronary Artery Disease
Prevent Cardiac Surgery Associated AKI Trial
Prevent CSA-AKI (Cardiac Surgery Associated Acute Kidney Injury) trial is a double blinded randomized controlled trial, 242 patients undergoing elective cardiopulmonary bypass surgery (CPB)will either receive a placebo or daily…
- Conditions
- Renal Failure, Coronary Artery Disease, Surgery, Surgery-Complications
- Trial name
- NCT06620523
- Testing
- CoQ10 1200 mg orally with Glutathione 1000 mg orally
- Where
- United States
- Volunteers
- 242 people
- Sponsor
- George Washington University
COPD and Lung Cancer
Environmental Pollutants in COPD and Lung Cancer
Epidemiological studies describe a statistically significant correlation between hospitalization rate and exposure to environmental pollutants such as atmospheric particulates (PM10 and PM2.5) and polycyclic aromatic hydrocarbons…
- Trial name
- NCT06483490
- Testing
- This is a cross-sectional, non pharmacological study
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- University of Campania Luigi Vanvitelli
Cytomegalovirus Retinitis, HIV Infections
The Safety and Effectiveness of Ganciclovir in the Prevention of Cytomegalovirus (CMV) of the Eyes and Disease of the Stomach and Intestines in Patients With HIV
To evaluate the safety and efficacy of oral ganciclovir for prophylaxis against cytomegalovirus (CMV) retinal and gastrointestinal mucosal disease in HIV-infected patients with severe immunosuppression.
- Conditions
- Cytomegalovirus Retinitis, HIV Infections, Gastrointestinal Diseases
- Trial name
- NCT00001034
- Testing
- Ganciclovir
- Where
- 17 sites in United States
- Volunteers
- 850 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Muscle Weakness, Myalgia
Coenzyme Q10 in Older Athletes Treated With Statin Medications
The purpose of this study is to evaluate the effect of coenzyme Q10 administration in improving mitochondrial function as measured by anaerobic threshold in older athletes on a stable dose of statin medication.
- Conditions
- Muscle Weakness, Myalgia, Side Effects of Statins
- Trial name
- NCT01026311
- Testing
- Coenzyme q 10
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Richard Deichmann, MD
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
Type 2 Diabetes
Exercise Resistance in Type 2 Diabetes
The purpose of this study is to collect data to help researchers identify factors that prevent certain individuals from receiving the beneficial effects of exercise.
- Trial name
- RESIST (NCT01911104)
- Testing
- Exercise
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- AdventHealth Translational Research Institute
Friedreich's Ataxia
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population.
- Trial name
- NCT02316314
- Testing
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiogram (ECHO)
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Postural Tachycardia Syndrome
Phenotyping Mitochondrial and Immune Dysfunction in POTS With Targeted Clinical Intervention.
The mechanisms underlying POTS are not well understood. Though heterogeneous in nature, patients often present with symptoms that include fatigue, orthostatic lightheadedness and tachycardia, "brain fog", shortness of breath, and…
- Trial name
- NCT05409651
- Testing
- Time restricted eating
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of California, San Diego
Optic Atrophy, Non-arteritic Anterior Ischemic Optic Neuropathy
Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
This is an open-label, dose escalation, safety, tolerability and pharmacokinetic study, where active study drug (QPI-1007) will be given to all patients who participate.
- Trial name
- NCT01064505
- Testing
- QPI-1007 at various doses
- Where
- 28 sites in United States, Israel
- Volunteers
- 48 people
- Sponsor
- Quark Pharmaceuticals