Clinical trials: Genetic Variation
Sickle Cell Disease, Sickle Cell Trait
Evaluation of Low-cost Techniques for Detecting Sickle Cell Disease and β-thalassemia in Nepal and Canada
Sickle cell disease (SCD) is an inherited blood disorder associated with acute illness and organ damage. In high resource settings, early screening and treatment greatly improve quality of life.
- Conditions
- Sickle Cell Disease, Sickle Cell Trait, Beta-Thalassemia, Sickle Cell-Beta Thalassemia
- Trial name
- NCT05506358
- Testing
- High performance liquid chromatography, Automated sickling test, HbS solubility test
- Where
- 3 sites in Canada, Nepal
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Myopia
Association of Genetic Variants With Myopia
This study aims to identify genetic factors linked to myopia, including those that influence a person's risk of developing it and how quickly it progresses (like changes in eye length).
- Trial name
- NCT07030153
- Testing
- Oral swab DNA analyzed for myopia-related gene variants
- Where
- 2 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Beijing Visionly Plus Eye Hospital
Sickle Cell Anemia, Hemoglobinopathy
Bone Marrow Transplant From Donor Using Less Toxic Conditioning for Patient With High Risk Hemoglobinopathies
The major goal of this study is to determine the risks and benefits of stem cell transplants in combination with a newer, less toxic conditioning chemotherapy treatment in patients with severe sickle cell disease (SCD) or sickle…
- Conditions
- Sickle Cell Anemia, Hemoglobinopathy, Thalassemia
- Trial name
- NCT00040417
- Testing
- FLUDARABINE, CAMPATH-IH, Total Body Irradiation
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- Baylor College of Medicine
Coronavirus Infection
Surfactant Protein Genetic Variants in COVID-19 Infection
Surfactant protein plays important role in innate immunity against respiratory viral infections. However, investigators have shown that the surfactant protein polymorphisms are associated with severity of various pulmonary…
- Trial name
- NCT04650191
- Testing
- Identification of genetic variants
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Milton S. Hershey Medical Center
Taybi Linder Syndrome, Genetic Syndrome
New Variants Involved in Taybi-Linder Syndrome
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD).
- Trial name
- NewViTALS (NCT03222947)
- Testing
- Deoxyribonucleic acid analysis
- Where
- France
- Volunteers
- 19 people
- Sponsor
- Hospices Civils de Lyon
Genetic Obesity
DAYBREAK: A Study of Setmelanotide in Participants With Specific Gene Variants in the Melanocortin-4 Receptor (MC4R) Pathway
The purpose of this study was to evaluate the safety and efficacy of once daily subcutaneous (SC) administration of setmelanotide in participants with obesity and specific gene variants in the MC4R pathway.
- Trial name
- NCT04963231
- Testing
- Setmelanotide
- Where
- 36 sites in United States, Canada and 6 more
- Volunteers
- 164 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Arrhythmogenic Right Ventricular Cardiomyopathy, Cardiomyopathies
Mayo AVC Registry and Biobank
Arrhythmogenic ventricular cardiomyopathy (AVC) is a genetic condition which affects the heart and can lead to heart failure and rhythm problems, of which, sudden cardiac arrest or death is the most tragic and dangerous.
- Conditions
- Arrhythmogenic Right Ventricular Cardiomyopathy, Cardiomyopathies, Heart Diseases, Cardiovascular Diseases
- Trial name
- NCT03049254
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Kartagener Syndrome, Cystic Fibrosis
Rare Genetic Disorders of the Breathing Airways
Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs.
- Conditions
- Kartagener Syndrome, Cystic Fibrosis, Pseudohypoaldosteronism, Primary Ciliary Dyskinesia
- Trial name
- NCT00323167
- Where
- 9 sites in United States, Canada
- Volunteers
- 367 people
- Sponsor
- University of North Carolina, Chapel Hill
ADHD, Attention Deficit Hyperactivity Disorder
Carboxylesterase 1 Genetic Variation and Methylphenidate in ADHD
The study team will determine the association between d,l-methylphenidate (MPH) therapeutic outcomes in ADHD patients and genetic variants of CES1 and reveal key associations between CES1 genotypes and the PK and PD of MPH.
- Trial name
- NCT03781752
- Testing
- Methylphenidate
- Where
- 4 sites in United States
- Volunteers
- 500 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Williams Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Inherited Retinal Degeneration, Retinitis Pigmentosa
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
This is an international, multicenter study with two components: Registry A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection Enrollment is open to all genes on the RD Rare…
- Trial name
- Uni-Rare (NCT05589714)
- Where
- 36 sites in United States, Australia and 12 more
- Volunteers
- 1,500 people
- Sponsor
- Jaeb Center for Health Research
Cancer
Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer
This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for…
- Trial name
- NCT03922893
- Testing
- Family History Information, ORAGENE, Blood
- Where
- 7 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Leukemia
Biomarkers in DNA Samples From Patients With High-Risk Acute Lymphoblastic Leukemia
RATIONALE: Studying samples of blood or tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01119586
- Testing
- DNA analysis, genetic linkage analysis, microarray analysis
- Volunteers
- 350 people
- Sponsor
- Children's Oncology Group
Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs
Whole Genome Sequencing for Blood Group Genotyping and Definition as Exemplified on U- and St(a)+.
No health condition(s) are studied. Genetic background of blood groups is studied. U- and Stones(a)+ ("Caucasian type") are used as proof-of-principle samples.
- Trial name
- Blood Genome (NCT02534519)
- Testing
- Whole Genome Sequencing (WGS)
- Where
- Switzerland
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Blood Donation Service Zurich, SRC
Hearing Disorder
Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan
Objective: One objective of this study is to genetically map and identify mutated genes for human hereditary hearing loss. A second objective is to study the function of these genes in the auditory system using mouse models.
- Trial name
- NCT00341874
- Where
- Pakistan
- Volunteers
- 18,009 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Cancer
Genome Sequencing of Human Cancer Tissues
The goal of this study is to develop a new, local system that will use special tests based on patients' genetic makeup to better tailor cancer care at the University of New Mexico Cancer Center.
- Trial name
- NCT02105545
- Testing
- Cancer Treatment Options
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- New Mexico Cancer Research Alliance
Wilson Disease
Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients
Wilson's disease (WD) is a genetic disorder characterized by an accumulation of copper in the body, mainly in the liver and brain.
- Trial name
- VARCUWIC (NCT06430359)
- Testing
- urine and blood test
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Genetic Disease, Inborn Errors of Metabolism
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders.
- Conditions
- Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Diseases
- Trial name
- NCT04399694
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Duke University
Li-Fraumeni Syndrome, TP53 Gene Mutation
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g.
- Conditions
- Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis
- Trial name
- LiFT_UP (NCT04541654)
- Testing
- Data and Specimen Collection
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- Dana-Farber Cancer Institute