Clinical trials: Nucleotide Variant
DAO Genetic Variants
Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
Observational study to estimate the prevalence of genetic DAO deficiency in the population.
- Trial name
- DAO-NEO-2022 (NCT06710366)
- Where
- Spain
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- AB Biotek
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
Variant Nucleotide
Solving Challenging Diagnoses Through Ultra-long Read Sequencing
If the study is able to demonstrate that the LRS concretely overcomes the technical limitations of diagnostic methods routinely used in laboratories, its clinical application may make possible a more accurate analysis of repeated…
- Trial name
- SCHeDULeRS (NCT06775613)
- Testing
- Long-read sequencing
- Where
- Italy
- Volunteers
- 15 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Premature Birth
Three Interacting Single Nucleotide Polymorphisms (SNPs) and the Risk of Preterm Birth in Black Families
A multilocus interaction of three pro-inflammatory cytokine single nucleotide polymorphisms (SNPs), -3448 Tumor Necrosis Factor-α, -7227 Interleukin 6, and 33314 Interleukin 6R was reported by Menon and associates in 2006.
- Trial name
- NCT00675753
- Testing
- Blood spot specimens will be drawn
- Where
- 2 sites in United States
- Volunteers
- 258 people, healthy volunteers welcome
- Sponsor
- University of Miami
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
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
Diabetic Nephropathy.
SLC2A1 Variants and Diabetic Nephropathy
Cells damaged by hyperglycemia are unable to downregulate glucose entrance in presence of high extracellular glucose resulting in intracellular activation of deleterious biochemical pathways.
- Trial name
- NCT01768611
- Where
- Brazil
- Volunteers
- 449 people
- Sponsor
- University of Sao Paulo General Hospital
Pain
Genetic Basis For Variation In NSAID Analgesia In A Clinical Model Of Acute Pain
This study will evaluate how genetic makeup contributes to the variation in people regarding their sensitivity to and experience of pain.
- Trial name
- NCT00115752
- Testing
- Valdecoxib, COX Inhibitor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- National Institute of Nursing Research (NINR)
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital