Clinical trials: Genetic Variation
Autism Spectrum Disorder (ASD)
Investigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
The goal of this observational study is to investigate the genetic and epigenetic mechanisms that may contribute to the development of Autism Spectrum Disorder (ASD) in individuals of different age groups.
- Trial name
- ASD-Omics-TR (NCT06662591)
- Where
- 20 sites in Turkey (Türkiye)
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Research and Treatment Society of Genetic Disorders
Systemic Lupus Erythematosus
A Prospective Study of Cyclophosphamide in Systemic Lupus Erythematosus Treatment
The purpose of this study is to compare the genotype-based personal prescription of cyclophosphamide with the traditional prescription.
- Trial name
- SLE (NCT01689350)
- Testing
- Genotype Detection
- Where
- China
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University
Sepsis, Pneumonia
Genetic Variation and Immune Responses After Injury
Our overall hypothesis is that genetic variations in innate immunity genes predispose patients to varying responses after injury by altering the systemic and local inflammatory responses.
- Conditions
- Sepsis, Pneumonia, Trauma, Burn
- Trial name
- NCT00294697
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- National Institute of General Medical Sciences (NIGMS)
Sickle Cell Anemia, Hemoglobinopathy
Bone Marrow Transplant From Related Donor for Patients With High Risk Hemoglobinopathies
The major goal of this study is to determine the risks and benefits of bone marrow transplants in patients with severe thalassemia or sickle cell disease. Participation in this project will be for two years.
- Conditions
- Sickle Cell Anemia, Hemoglobinopathy, Thalassemia
- Trial name
- NCT00040469
- Testing
- Campath -1H, Dilantin, Busulfan
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- Baylor College of Medicine
AIDS
The Effects of Genetic Differences Among AIDS Patients on Cytomegalovirus Retinitis
This study will evaluate the role of certain gene variants on the onset and course of cytomegalovirus (CMV) retinitis-a severe infection affecting the eye-in patients with AIDS.
- Trial name
- NCT00341172
- Where
- United States
- Volunteers
- 2,232 people
- Sponsor
- National Cancer Institute (NCI)
Sex Chromosome Aneuploidy
Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)
GALAXY is a registry research study that plans to learn more about individuals with X\&Y variations (also called sex chromosome aneuploidies) through collecting information from medical records.This includes genetic tests…
- Trial name
- GALAXY (NCT06373861)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Cryptococcosis
Evaluation of the Association of Polymorphisms in the Innate Immune System With the Risk for Cryptococcus Neoformans Infection in Patients Not Infected With HIV and Complications Associated With Cryptococcus Neoformans Infection
Innate immunity plays an important role for fungal recognition and initiation of fungicidal activity. We hypothesize that subtle differences in different molecules of innate immunity may contribute to either the predisposition or…
- Trial name
- NCT00001701
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- National Cancer Institute (NCI)
HIV Infections, Immune Activation
The University of Zimbabwe College of Health Science (UZ-CHS) BIRTH COHORT Study
Background Commencement of lifelong highly active antiretroviral therapy (HAART) immediately after HIV diagnosis (option B+), for treatment of human immunodeficiency virus (HIV), has greatly improved maternal-infant health in sub…
- Conditions
- HIV Infections, Immune Activation, Comorbidities
- Trial name
- UZ-CHS-BC (NCT04087239)
- Testing
- HIV
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- University of Zimbabwe
Rare Diseases, Genetic Disease
Structural Chromosome Rearrangements and Brain Disorders
The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations.
- Conditions
- Rare Diseases, Genetic Disease, Chromosome Abnormality
- Trial name
- NCT06072079
- Where
- Sweden
- Volunteers
- 10,000 people
- Sponsor
- Karolinska Institutet
Rare Diseases, Genetic Predisposition
Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes
For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included.
- Trial name
- EXGEFATU (NCT04731857)
- Testing
- Retrospective data analysis
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
Huntington Disease
Far Infrared Irradiation for Managing, Control and Treatment of Huntington's Disease (HD)
Huntington's disease (HD) is a fatal disease with profound neurological and behavioral features. HD is typically characterized by uncontrollable movements and psychological disturbances.
- Trial name
- NCT00675077
- Testing
- Far Infrared Radiation
- Where
- Canada
- Volunteers
- 5 people
- Sponsor
- GAAD Medical Research Institute Inc.
Non Alcoholic Fatty Liver Disease
Genetics of Fatty Liver Disease in Children
This is a study to investigate genetic predisposition to hepatic steatosis and the expression of gluconeogenic and lipogenic genes in livers of obese children and adolescents.
- Trial name
- NCT01966627
- Testing
- ogtt, genotyping, abdominal and liver magnetic resonance imaging
- Where
- United States
- Volunteers
- 381 people
- Sponsor
- Yale University
Endocrinology, Disorders of Sexual Development
Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon
Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal…
- Conditions
- Endocrinology, Disorders of Sexual Development, Prenatal Diagnosis, Psychology
- Trial name
- PECAN-VDG (NCT06687252)
- Where
- France
- Volunteers
- 170 people
- Sponsor
- Hospices Civils de Lyon
Childhood Cancer, Genetic Predisposition
Genetic Risks for Childhood Cancer Complications in Switzerland
The objectives of the GECCOS project are to identify genetic variants associated with complications of childhood cancer using genotype-phenotype association studies.
- Conditions
- Childhood Cancer, Genetic Predisposition, Late Effect
- Trial name
- GECCOS (NCT04702321)
- Testing
- Procedure: Biospecimen Collection, Procedure: Medical Chart Review
- Where
- Switzerland
- Volunteers
- 6,000 people
- Sponsor
- University Hospital, Geneva
Kidney Cancer
DNA Variations in the Gene in Young Patients With Wilms' Tumor
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that may occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00088803
- Testing
- molecular genetic technique, polymerase chain reaction, polymorphism analysis
- Where
- 232 sites in United States, Australia and 5 more
- Volunteers
- 471 people, healthy volunteers welcome
- Sponsor
- Children's Oncology Group
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease
This is a phase 1/2, open-label, single dose study to evaluate the safety and efficacy of AT-GTX-501 delivered intrathecally into the lumbar spinal cord region of participants with mild to moderate variant late infantile neuronal…
- Trial name
- NCT02725580
- Testing
- AT-GTX-501
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Emily de los Reyes
Genetic Variation, Diabetes
Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus
The aim of the project is to positionally clone susceptibility genes for NIDDM. Patients will be ascertained in Finland from previous health surveys and hospital discharge records.
- Trial name
- NCT00339885
- Where
- 4 sites in Finland, Norway
- Volunteers
- 32,379 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Genetics Syndrome, Ehlers-Danlos Syndrome
Genetics of Ehlers-Danlos Syndrome
We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr.
- Trial name
- NCT03093493
- Testing
- Genotyping
- Where
- United States
- Volunteers
- 334 people, healthy volunteers welcome
- Sponsor
- Boston University
Atopic Dermatitis
The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
The incidence of atopic dermatitis has increased dramatically in this years. Atopic dermatitis occurs due to complex interactions between genetic and environmental factors.
- Trial name
- FLG-FADSgen (NCT02401178)
- Where
- Indonesia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia