Clinical trials: Mitochondrial DNA
Leber's Hereditary Optic Neuropathy
Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy
The study is a dose-escalation study, phase 1. The objective of this proposed clinical trial is to evaluate the safety of mitochondrially targeted ND4 gene therapy with the adeno-associated viral vector in appropriate LHON…
- Trial name
- LHON (NCT02161380)
- Testing
- injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med), injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Byron Lam
Colitis, HIV Infections
A Randomized Comparative Pharmacokinetic Study of Oral Ganciclovir After Treatment With Intravenous Ganciclovir for Cytomegalovirus Gastrointestinal Disease in AIDS Patients
To determine the oral bioavailability of three dose levels of oral ganciclovir given with and without glutamic acid hydrochloride in patients with cytomegalovirus (CMV) GI disease, and to compare the bioavailability of these…
- Trial name
- NCT00000768
- Testing
- Glutamic acid hydrochloride, Ganciclovir
- Where
- 5 sites in United States
- Volunteers
- 24 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cytomegalovirus Retinitis, HIV Infections
A Randomized, Controlled Study of Intravenous Ganciclovir Therapy for Peripheral Cytomegalovirus Retinitis in Patients With AIDS
To provide information about the usefulness and safety of giving injections of ganciclovir (DHPG) for treating peripheral cytomegalovirus (CMV) retinitis.
- Trial name
- NCT00000688
- Testing
- Ganciclovir
- Where
- 22 sites in United States
- Volunteers
- 180 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake.
- Trial name
- A-TC7 (NCT04513002)
- Testing
- Triheptanoin
- Where
- Australia
- Volunteers
- 30 people
- Sponsor
- The University of Queensland
Type 2 Diabetes Mellitus
Mitochondrial DNA Copy Number and Leukocyte Telomere Length as Biomarkers in Type 2 Diabetic Patients
Type 2 diabetes mellitus, which is characterised by a combination of insulin resistance and insufficient insulin secretion is a major contributor to the burden of morbidity and mortality worldwide.
- Trial name
- NCT05684406
- Testing
- Genotyping
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Sohag University
Cytomegalovirus Retinitis, HIV Infections
A Randomized Controlled Study of the Efficacy and Safety of Maintenance Treatment With Oral Ganciclovir for Newly Diagnosed Cytomegalovirus Retinitis in People With AIDS
To compare the time to progression of CMV retinitis between oral ganciclovir and IV ganciclovir during 20 weeks of maintenance treatment.
- Trial name
- NCT00002257
- Testing
- Ganciclovir
- Where
- 13 sites in United States, Canada
- Volunteers
- 150 people
- Sponsor
- Hoffmann-La Roche
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland
Cytomegalovirus Retinitis, HIV Infections
A Phase I Pharmacokinetic and Tolerance Study of 28-Day Regimens of Oral Ganciclovir
To determine the pharmacokinetics (blood levels) of three dose treatment plans of oral ganciclovir during a 28-day dosing period.
- Trial name
- NCT00000668
- Testing
- Ganciclovir
- Where
- 5 sites in United States
- Volunteers
- 48 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cytomegalovirus Retinitis, HIV Infections
An Open Label Evaluation of the Safety and Pharmacokinetics of Ganciclovir in Children
To evaluate the pharmacokinetics of intravenous ganciclovir in children (ages 3 months - 12 years). To determine the safety and tolerance of a 2 to 3 week induction course of ganciclovir IV in immunocompromised children receiving…
- Trial name
- NCT00002015
- Testing
- Ganciclovir
- Where
- 8 sites in United States
- Volunteers
- 20 people
- Sponsor
- Roche Global Development
Cytomegalovirus Infections, HIV Infections
A Multiple Dose Crossover Pharmacokinetics Study to Evaluate the Effects of Food on the Absorption of Oral Ganciclovir
This study is designed to determine the influence of food on the absorption and relative bioavailability of oral ganciclovir by comparing the absorption of oral ganciclovir in a fed and fasting state at steady state plasma levels.
- Trial name
- NCT00002251
- Testing
- Ganciclovir
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Hoffmann-La Roche
Cytomegalovirus Retinitis, HIV Infections
A Phase II Dose-Ranging, Open-Labelled Trial of Foscarnet Salvage Therapy for AIDS Patients With Sight-Threatening CMV Retinitis Who Cannot Be Treated With Ganciclovir Due To Myelosuppression or Treatment Failure
To examine the usefulness and safety of the antiviral drug foscarnet in treating AIDS patients with cytomegalovirus (CMV) infection that is causing sight-threatening inflammation of the retina in one or both eyes (CMV retinitis).
- Trial name
- NCT00000691
- Testing
- Foscarnet sodium
- Where
- 11 sites in United States
- Volunteers
- 156 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Primary Mitochondrial Diseases
A First in Human Study to Evaluate the Safety of Infusion of MNV-BM-PLC (Autologous CD34+ Cells Enriched With Placenta Derived Allogeneic Mitochondria) in Patients With Primary Mitochondrial Diseases Associated With Mitochondrial DNA Mutation or Deletion
The study objectives are to evaluate the safety of a single intravenous (IV) infusion of autologous CD34+ cells enriched with placenta-derived allogeneic mitochondria in participant with primary mitochondrial disease associated…
- Trial name
- NCT04548843
- Testing
- Bone Marrow mobilization, Apheresis, MNV-BM-PLC infusion
- Where
- Israel
- Sponsor
- Minovia Therapeutics Ltd.
Mitochondrial Myopathies, Mitochondrial DNA Mutation
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks.
- Conditions
- Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy
- Trial name
- NCT05012358
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
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
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)
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
Cytomegalovirus Retinitis, HIV Infections
A Treatment Protocol for the Use of Intravenous Ganciclovir in AIDS Patients With Immediately Sight-Threatening CMV Retinitis
To determine the safety and effectiveness of intravenous ganciclovir (also known as DHPG) in the treatment of sight-threatening cytomegalovirus (CMV) retinitis in patients with AIDS.
- Trial name
- NCT00000698
- Testing
- Ganciclovir
- Where
- United States
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
PolG, Primary Mitochondrial Myopathy
Prospective Natural History Study of POLG Disease
The PIONEER study is a prospective, natural history study dedicated to characterizing the clinical progression of POLG-related disorders.
- Trial name
- PIONEER (NCT07775872)
- Where
- 21 sites in United States, Australia and 7 more
- Volunteers
- 300 people
- Sponsor
- The POLG Foundation