Clinical trials: DNA
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
Colon Adenocarcinoma, DNA Repair Disorder
Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair
This phase III trial studies combination chemotherapy and atezolizumab to see how well it works compared with combination chemotherapy alone in treating patients with stage III colon cancer and deficient deoxyribonucleic acid…
- Conditions
- Colon Adenocarcinoma, DNA Repair Disorder, Lynch Syndrome, Stage III Colon Cancer AJCC v8
- Trial name
- NCT02912559
- Testing
- Atezolizumab, Biospecimen Collection, Computed Tomography
- Where
- 1,049 sites in United States, Germany and 1 more
- Volunteers
- 712 people
- Sponsor
- National Cancer Institute (NCI)
Mitochondrial Diseases, Mitochondrial Encephalomyopathy
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy…
- Conditions
- Mitochondrial Diseases, Mitochondrial Encephalomyopathy, Mitochondrial Encephalopathy, Mitochondrial DNA Depletion
- Trial name
- dC-dT-MDS (NCT04802707)
- Testing
- deoxycytidine and deoxythymidine
- Where
- Canada
- Volunteers
- 200 people
- Sponsor
- Kenneth Myers, MD
Male Infertility, Sperm DNA Fragmentation
Nordic Sperm DNA Study
Introduction The goal of this prospective observational study with an embedded randomized controlled trial (RCT) is to investigate the prevalence and clinical significance of sperm DNA fragmentation (damage to the genetic…
- Conditions
- Male Infertility, Sperm DNA Fragmentation, Lifestyle Intervention
- Trial name
- NCT07779954
- Testing
- Lifestyle change
- Volunteers
- 800 people
- Sponsor
- Regionshospitalet Viborg, Skive
Heart Transplant, Pediatric Heart Transplant
Non-invasive Prediction of EArly Cardiac rEjection
Acute rejection remains a major cause of morbidity and mortality in pediatric patients after heart transplant. In order to screen for rejection, most centers perform heart catheterizations with endomyocardial biopsies frequently…
- Conditions
- Heart Transplant, Pediatric Heart Transplant, Rejection, Cardiac MRI
- Trial name
- PEACE (NCT07770659)
- Where
- 22 sites in United States
- Volunteers
- 200 people
- Sponsor
- Vanderbilt University Medical Center
Febrile Seizures, Oxidative Stress
8-OHdG and Oxidative Stress in Febrile Seizures
This prospective case-control study investigates whether serum 8-hydroxy-2'-deoxyguanosine (8-OHdG), an established biomarker of reactive oxygen species-mediated DNA oxidation, is elevated in children with febrile seizures…
- Conditions
- Febrile Seizures, Oxidative Stress, Oxidative DNA Damage
- Trial name
- NCT07660003
- Testing
- Group 1 Health Controls, Group 2 SFC, Group 3 CFC
- Where
- Turkey (Türkiye)
- Volunteers
- 156 people
- Sponsor
- Kayseri City Hospital
Fanconi Anemia, Anemia, Hypoplastic, Congenital
Prenatal Transplantation for Fetuses With Fanconi Anemia
The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.
- Conditions
- Fanconi Anemia, Anemia, Hypoplastic, Congenital, Congenital Bone Marrow Failure Syndromes, Bone Marrow Failure Disorders
- Trial name
- NCT07408583
- Testing
- IUHSCT for FA-affected fetuses
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Agnieszka Czechowicz
DNA Repair Disorder, Cockayne Syndrome
Natural History Study for DNA Repair Disorders
This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders…
- Conditions
- DNA Repair Disorder, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy
- Trial name
- NCT05484570
- Testing
- Interval History, Physical Examination, ECAB Assessment
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Minnesota
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial DNA Depletion Syndrome 2 Myopathic Type, Thymidine Kinase 2 Deficiency
Treatment of TK2 Deficiency With Thymidine and Deoxycytidine
Patients with confirmed mitochondrial DNA depletion syndrome 2 (thymidine kinase 2 [TK2] deficiency) have reduced levels of nucleotides (deoxythymidine monophosphate and deoxycytidine monophosphate) for mitochondrial DNA…
- Trial name
- NCT03639701
- Testing
- Thymidine
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Columbia University
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms.
- Trial name
- NCT01532791
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Columbia University
Cytomegalovirus Infection
A Study to Evaluate the Efficacy, Safety, and Immunogenicity of mRNA-1647 Cytomegalovirus (CMV) Vaccine in Healthy Participants 16 to 40 Years of Age
The main purpose of this study is to evaluate the efficacy of mRNA 1647 vaccine in CMV-seronegative female participants and to evaluate the safety and reactogenicity of mRNA-1647 vaccine in all participants.
- Trial name
- NCT05085366
- Testing
- mRNA-1647
- Where
- 296 sites in United States, Australia and 11 more
- Volunteers
- 7,454 people, healthy volunteers welcome
- Sponsor
- ModernaTX, Inc.
Primary Immune Deficiency Disorder, Immune Deficiency Disease
Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
Phase II prospective trial to assess the rates of donor engraftment using reduced intensity conditioning (RIC) hematopoietic stem cell transplant (HSCT) and post-transplant cyclophosphamide (PTCy) for patients with primary immune…
- Conditions
- Primary Immune Deficiency Disorder, Immune Deficiency Disease, Bone Marrow Failure, Short Telomere Length
- Trial name
- NCT04232085
- Testing
- Alemtuzumab, Fludarabine, Melphalan
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Monkeypox (Mpox)
Epidemiological and Pathophysiological Insights Through a Cross-sectional Survey (EPIC)
This study aims to better understand how mpox is spreading in the DRC, how it affects different groups of people, and how well vaccines protect against it.
- Trial name
- MBOTE-EPIC (NCT06840860)
- Where
- 2 sites in Democratic Republic of the Congo
- Volunteers
- 1,000 people
- Sponsor
- Institute of Tropical Medicine, Belgium
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENERGYC Study
This a randomized placebo controlled, double-blind phase II study to explore the pharmacokinetics, safety and efficacy of sonlicromanol in children (from birth to 17 years) with genetically confirmed mitochondrial disease of…
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, MELAS, Subacute Necrotizing Encephalomyelopathy
- Trial name
- NCT04846036
- Testing
- Sonlicromanol
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Khondrion BV
Common Wart, Warts Hand
Cantharidin and Occlusion in Verruca Epithelium
This is a Phase 2, open label study (Study number VP-102-105; referred to as COVE-1 [Cantharidin and Occlusion in Verruca Epithelium]) to evaluate the efficacy, safety and tolerability of VP-102 treatment in subjects with common…
- Conditions
- Common Wart, Warts Hand, Warts, Papillomavirus Infections
- Trial name
- COVE-1 (NCT03487549)
- Testing
- VP-102 Cantharidin topical film forming solution, VP-102 Cantharidin, topical film forming solution
- Where
- 5 sites in United States
- Volunteers
- 56 people
- Sponsor
- Verrica Pharmaceuticals Inc.
Stunting, Development, Child
Methylation, mIcrobiome, NUtritional sTatus, and dEvelopment of Stunted Children
The investigators will conduct a case-control study among under-two children in Lombok Timur, West Nusa Tenggara, Indonesia. The power required to detect changes in epigenetic markers may not be sufficient in the cohort study.
- Conditions
- Stunting, Development, Child, DNA Methylation, Epigenetics
- Trial name
- MINUTES (NCT05779904)
- Where
- Indonesia
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- SEAMEO Regional Centre for Food and Nutrition
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
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
Sperm DNA Fragmentation, Male Fertility
Impact of Telomere Biology and Sperm DNA Fragmentation on Embryonic Development
The proposed project we intend to assess the implication of the telomeric pathway in male infertility. To get this, several analyzes will be carried out: 1. Determination of the TL by means of two methods: Q-FISH and PCR. 2.
- Conditions
- Sperm DNA Fragmentation, Male Fertility, Telomeres, Sperm
- Trial name
- NCT05508217
- Where
- Spain
- Volunteers
- 204 people, healthy volunteers welcome
- Sponsor
- IVI Madrid