Clinical trials: Genetic Variation
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
HIV Infections, Tuberculosis
Characteristics and Prevalence of Tuberculosis and HIV in Masiphumelele Township, Cape Town, South Africa
The purpose of this study is to determine the number of people infected with tuberculosis (TB) in the Masiphumelele Township of Cape Town, South Africa, a community with high rates of TB and HIV.
- Trial name
- NCT00346476
- Where
- 2 sites in South Africa
- Volunteers
- 1,250 people, healthy volunteers welcome
- Sponsor
- CIPRA SA
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
Malaria,Falciparum, Malaria in Pregnancy
Plasmodium Falciparum Genomic Intelligence in Mozambique
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 9.3 million cases in 2018, and constitutes a core target for the World Health Organization (WHO) and the Roll Back Malaria…
- Conditions
- Malaria,Falciparum, Malaria in Pregnancy, Malaria
- Trial name
- GenMoz (NCT05306067)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 21,848 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
Collection of Clinical Data That Will be Used in This Study and Will Form a Data Bank for Asthma in Saudi Arabia, Identify Known and NOVEL Genetic Risk Factors Contributing to Asthma Susceptibility
Novel Gentic Variations Contributing to Asthma Susceptability in Saudi Arabia
Research Problem Asthma is one of the most common chronic diseases in the world that affects approximately 300 million individuals worldwide.
- Conditions
- Collection of Clinical Data That Will be Used in This Study and Will Form a Data Bank for Asthma in Saudi Arabia, Identify Known and NOVEL Genetic Risk Factors Contributing to Asthma Susceptibility, Study the Mechanistic Roles of the Genetic Variants Within Major Asthma Susceptibility Genes
- Trial name
- NCT01216215
- Where
- Saudi Arabia
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- King Saud 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
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Bronchiectasis, Cystic Fibrosis
Natural History of Bronchiectasis
Bronchiectasis is a chronic inflammatory and muco-obstructive condition that results in abnormal dilation of the airways, decline in lung function, frequent exacerbations, and chronic respiratory tract infections.
- Conditions
- Bronchiectasis, Cystic Fibrosis, Autoimmune Disease, Common Variable Immunodeficiency
- Trial name
- NCT00943514
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Overactive Bladder
Urinary Neurotrophin Levels in Healthy Children
The aim of this study is to analyse urinary neurotrophin levels in healthy children. Urine samples will be collected at 3 different times of day (morning, noon, and evening) at urge sensation from all age groups of children who…
- Trial name
- NCT02389270
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Zagreb
Lichen Sclerosus Lesion
Identification of Genetic Variants Associated With Lichen Sclerosus
Lichen Sclerosus (LS) is a common genital skin condition that severely impacts on daily living. LS occurs worldwide but may be more common in the white population.
- Trial name
- GENITALS (NCT07720830)
- Testing
- No Interventions
- Where
- Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Gudula Kirtschig
Depression, Depressive Disorder
Metformin as Adjunct Therapy in Depression-obesity Comorbidity: Clinical and Genetic Evaluation
The patients with depression and obesity will receive add-on metformin with antidepressant therapy, which may result in greater improvement in depressive symptoms and BMI reduction compared to antidepressant monotherapy.
- Conditions
- Depression, Depressive Disorder, Overweight or Obesity, Depressive Symptoms
- Trial name
- NCT07654179
- Testing
- Metformin, Antidepressant Therapy
- Where
- 2 sites in Pakistan
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Riphah International University
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)
Cancer Colon
Genetic Variants of Selected Genes in Colo-Rectal Cancer Patients.
Colorectal cancers (CRC) are the third most common human malignancy, and are also the leading cause of cancer related deaths worldwide.
- Trial name
- NCT02542670
- Testing
- Whole genome sequencing
- Where
- 2 sites in Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Sherief Abd-Elsalam
Enterovirus 71, Host Genetics, Social, Behavior, Environmental Factors
Children's Susceptibility to Enterovirus 71 in Different Areas of Taiwan
EV71 has caused large epidemics with lots of fatal cases and cases with sequelae. However, the clinical syndromes and severity of the same EV71 strain are very diverse, ranging from asymptomatic (71%) to fatal (0.05%) disease…
- Trial name
- DMR100-IRB-010 (NCT01311921)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- China Medical University Hospital
Williams Syndrome, Supravalvular Aortic Stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02840448
- Where
- 2 sites in United States
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Colorectal Cancer
Implication of Genetic Variations in Long Intergenic Non-coding RNA 00511 (LINC00511) in Colorectal Cancer
As, there is a lack of information about the association between LINC00511 SNP(s) variants and CRC susceptibility, so this study was undertaken to address whether these SNPs would increase CRC risk or could predict its prognosis.
- Trial name
- NCT06534242
- Where
- Egypt
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
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
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