Clinical trials: Genetics Predisposition
Primary Ovarian Insufficiency, Genetic Predisposition to Disease
Genetic Etiology in Premature Ovarian Insufficiency
Premature Ovarian Insufficiency (POI), first described by Albright in 1942, is defined as an increase in Follicle Stimulating Hormone (FSH), an insufficiency of the ovarian function leading to an early menopause (<40 years of…
- Trial name
- POI (NCT01973075)
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- BEGUM AYDOGAN
Cardiovascular Diseases
Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention
The goal of this clinical trial is to evaluate whether the disclosure of Polygenic Risk Scores (PRS) combined with personalized coaching on risk factors can lead to significant improvements in lifestyle behaviors among staff…
- Trial name
- PHC (NCT06888466)
- Testing
- The result of the Polygenic Risk Score will be communicated to the patient with the aim of encouraging a change in behavior
- Where
- Italy
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Catholic University of the Sacred Heart
Hereditary Breast and Ovarian Cancer, Mutation
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
TUMOSPEC is a national family study designed to measure the relative and absolute risk of cancer for carriers of deleterious mutations to these "new" breast cancer (BC) susceptibility genes.
- Trial name
- TUMOSPEC (NCT03246841)
- Testing
- Genetic testing
- Where
- 2 sites in France
- Volunteers
- 7,274 people, healthy volunteers welcome
- Sponsor
- UNICANCER
Colon Cancer, Colorectal Cancer
Does Genetic Susceptibility for Bleeding Affect Quantitative Faecal Immunochemical Test (qFIT) Results?
Quantitative faecal immunochemical testing (qFIT) is used to test for blood within faeces that cannot always be visible. The presence of blood in the stool has been shown to be a finding where there may be a problem within the…
- Trial name
- NCT05329870
- Testing
- SNP array
- Where
- United Kingdom
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Edinburgh
COVID-19 Pneumonia, Embolism
Embolism in COVID-19 Positive Patients
Covid-19 outbreak has caused death of millions of people because of not only the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection itself but also infection dependent complications.
- Conditions
- COVID-19 Pneumonia, Embolism, Genetic Predisposition
- Trial name
- NCT04910360
- Where
- Turkey (Türkiye)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Afyonkarahisar Health Sciences University
HIV/AIDS, Albuminuria
Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria
In this study, the Investigators plan to determine the optimal means to prevent or slow the progression of kidney disease among genetically at-risk northern Nigerian HIV-infected adults.
- Conditions
- HIV/AIDS, Albuminuria, Kidney Diseases, Genetic Predisposition
- Trial name
- R3 (NCT03201939)
- Testing
- Lisinopril
- Where
- Nigeria
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Acute Pancreatitis
Assessment of the Different Etiological and Susceptibility Markers in Patients With Pancreatitis: Investigating IG4, Cytomegalovirus, Coxsackie- Virus, Genetic Polymorphism of Vitamin D Receptor Gene
Acute pancreatitis (AP) is a multifactorial disease. AP represents a significant number of hospital admissions. Most of the patients are admitted in an acute setting.
- Trial name
- NCT03830073
- Testing
- Measurement of VDR genetic polymorphism
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
Neurological and Mental Health Conditions, Genetic Susceptibility
Mapping Antenatal Maternal Stress
This study recruits women from early-mid pregnancy and later follows their children after birth, tracking both the mother and child until the child reaches at least 4 years of age.
- Conditions
- Neurological and Mental Health Conditions, Genetic Susceptibility, Socioeconomic Factors, Psychology, Social
- Trial name
- MAMS (NCT07432217)
- Where
- Singapore
- Volunteers
- 1,419 people, healthy volunteers welcome
- Sponsor
- Institute for Human Development and Potential (IHDP), Singapore
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring.
- Conditions
- Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
- Trial name
- NCT04431024
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
DiGeorge Syndrome, Velocardiofacial Syndrome
Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems.
- Conditions
- DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
- Trial name
- NCT00105274
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Hypothyroidism, Subclinical Hypothyroidism
Thyroid Disorders in Malaysia: A Nationwide Multicentre Study
This will be a population based study looking at the prevalence of thyroid disorders in Malaysia (including hypo- and hyperthyroidism, subclinical hypo- or hyperthyroidism) and its association with different ethnicity and iodine…
- Conditions
- Hypothyroidism, Subclinical Hypothyroidism, Hyperthyroidism, Subclinical Hyperthyroidism
- Trial name
- MyEndo-Thyroid (NCT02190214)
- Volunteers
- 2,498 people, healthy volunteers welcome
- Sponsor
- International Islamic University Malaysia
Genetic Predisposition to Disease, Healthy Volunteers
This Study Consists of Two Study Parts Conducted Under a Single IRB. Part I: Short Term ApoE-dependent Cerebral Blood Flow Response to Sirolimus in Cognitively Normal Adults Part II: Short Term ApoE-dependent Cerebral Blood Flow and Lung Perfusion Response to Sirolimus in Cognitively Normal Adults
This study consists of two study parts (Part I and Part II) conducted under a single IRB approval. Individuals that participated in Part I of the study were invited to participate in Part II of the study.
- Trial name
- NCT05386914
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 205 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Cigarette Smoking, Nicotine Dependence
Smokers' Response to Nicotine Dependence Genotyping
Innovative strategies to reduce adult smoking prevalence include using genetic information to motivate cessation and, ultimately, to tailor cessation pharmacotherapy.
- Trial name
- NCT01780038
- Testing
- Receipt of Genetic Results, No results given
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of Nebraska
Renal Tumor Histology, Cutaneous Leiomyoma
Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
This study will investigate what causes hereditary leiomyomatosis renal (kidney) cell cancer, or HLRCC, and how the disease is related to the development of kidney tumors.
- Conditions
- Renal Tumor Histology, Cutaneous Leiomyoma, Kidney Cancer
- Trial name
- NCT00050752
- Where
- United States
- Volunteers
- 1,350 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Type 1 Diabetes Mellitus, Genetic Predisposition to Disease
Mechanisms of Type 1 Diabetes Endophenotypes
The goal of this observational study consists of performing cluster analysis to decipher underlying disease mechanisms of type 1 diabetes in children and young adults.
- Trial name
- METYDIA (NCT05764850)
- Testing
- Genome sequencing
- Where
- Switzerland
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Pediatric Clinical Research Platform
Genetic Predisposition, Family Members
The Preventive Risk Outreach And Cascade Testing
The goal of this clinical trial is to learn whether a new online program developed by the research team is able to help families learn about family cancer risk and how to reduce this risk, as well as help interested family…
- Trial name
- PROACT (NCT07478237)
- Testing
- Minimally facilitated platform, AI-powered platform
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Stanford University
Genetic Predisposition to Disease, Breathing, Mouth
Expression of Genes Relating Hypertension and Efficacy of 4-7-8 Breathing Control on Reducing Blood Pressure
This study consists of two sub-studies. Study 1 investigates gene expression related to the development of hypertension in Thailand, and Study 2 examines the effectiveness of the 4-7-8 breathing technique in reducing blood…
- Trial name
- NCT07018128
- Testing
- Study 2: deep breathing, Study 2: 4-7-8 breathing, Study 2: slow breathing with device
- Where
- Thailand
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Burapha University
Smoking Cessation
Impact of a Gene Test for Susceptibility to Lung Cancer in Smokers
Professor RP Young (Associate Professor of Medicine and Molecular Medicine, School of Biological Sciences, University of Auckland) and his team have developed a reliable genetic test "Respiragene" based on 20 single nucleotide…
- Trial name
- NCT01176383
- Testing
- Respiragene test and risk score
- Where
- United Kingdom
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Sussex NHS Research Consortium
Type 1 Diabetes, Celiac Disease
General Population Level Estimation for Type 1 Diabetes Risk in Children During Routine Care Delivery
In partnership with Helmsley Charitable Trust, the Sanford PLEDGE Study is a large-scale, observational, feasibility study of general population screening for T1D and celiac autoantibodies.
- Trial name
- PLEDGE (NCT04477928)
- Testing
- Sera and whole blood sampling, Differential Gene Expression (DGE)
- Where
- 4 sites in United States
- Volunteers
- 33,000 people, healthy volunteers welcome
- Sponsor
- Sanford Health
Cancer
Physicians Survey on Genetic Testing
Research and development in genetic testing for cancer susceptibility genes has advanced rapidly in recent years, allowing healthy individuals, cancer patients, and their families to determine if they carry mutations which…
- Trial name
- NCT00341107
- Volunteers
- 1,350 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)