Clinical trials: Genetics Predisposition
Pre-Diabetes
Genetic Physiopathology and Evolution of Type 2 Diabetes
There are few longitudinal studies in the Caucasian population and even less in the Italian population in subjects with impaired glucose regulation to allow: 1. An estimate of the rate of conversion to type 2 diabetes; 2.
- Trial name
- GENFIEV (NCT00879801)
- Where
- Italy
- Volunteers
- 1,017 people
- Sponsor
- University of Pisa
Critical Illness
Innate Immunity Gene Polymorphisms and Yeast Colonization
It is proposed to carry out the study in three medical or surgical intensive care units (ICU) in the CHRU, Lille, and the CHU, Besançon.
- Trial name
- Candigene (NCT02888860)
- Where
- 6 sites in France
- Volunteers
- 2,200 people
- Sponsor
- University Hospital, Lille
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Genetic Predisposition
Barriers and Facilitators of Parent-Child Communication in Children With Cancer Predisposition
Testing children, adolescents, and young adults (CAYA) for a genetic risk for cancer can help with early prevention and detection of cancers through regular follow-ups and medical care.
- Trial name
- NCT05849155
- Where
- United States
- Volunteers
- 125 people
- Sponsor
- St. Jude Children's Research Hospital
Alzheimer's Disease
Risk Evaluation and Education for Alzheimer's Disease
The purpose of this study is to determine the characteristics of those who obtain genetic susceptibility testing for Alzheimer's disease with APOE disclosure and to study the psychological and behavioral consequences of providing…
- Trial name
- REVEAL I (NCT00571025)
- Testing
- APOE Disclosure
- Where
- 3 sites in United States
- Volunteers
- 301 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Diabetes Mellitus, Insulin-Dependent
Genetic and Environmental Risk Factors of Type 1 Autoimmune Diabetes and Its Early Complications
The aim of this study is to complete the identification of genetic factors (G) and to undertake the search of environmental factors (E) predisposing to type 1 diabetes (T1D) by constituting a cohort of 3500 T1D patients and a…
- Trial name
- ISIS-DIAB (NCT02212522)
- Testing
- Collect of environmental data on T1D patients before diagnosis, Collect of blood samples for DNA extraction and genetic characterization (GWAS), Collect of clinical data on the disease and its evolution
- Where
- France
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Nasopharyngeal Carcinoma
Molecular Genetics Study of Nasopharyngeal Carcinoma: Characterization of NCP Susceptibility Gene(s)
The objective of this study is to characterize genes associated either with susceptibility or resistance to the development nasopharyngeal carcinoma (NPC) in a Chinese population where the incidence of NPC is as high as 50 in…
- Trial name
- NCT00341146
- Where
- China
- Volunteers
- 6,490 people
- Sponsor
- National Cancer Institute (NCI)
Genes, Sporadic Chordoma
Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes
Background: Chordoma is a rare, slow growing, often fatal bone cancer derived from remnants of the embryonic notochord. It occurs mostly in the axial skeleton (skull base, vertebrae, sacrum and coccyx), is more frequent in males…
- Trial name
- NCT01200680
- Where
- United States
- Volunteers
- 188 people
- Sponsor
- National Cancer Institute (NCI)
Genetic Predisposition to Disease
Breast Cancer Risk After Diagnostic Gene Sequencing
Study of the psychological impact of breast cancer risk communication in Cancer Genetics based on the personalized estimation of the BOADICEA V5/PLUS model ("Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation…
- Trial name
- BRIDGEScohort2 (NCT04145817)
- Testing
- BRIDGES gene panel testing, Breast cancer risk polygenic risk score (PRS), Questionnaires
- Where
- 2 sites in France, Germany
- Volunteers
- 405 people
- Sponsor
- Institut Curie
Breast Cancer, Ovarian Cancer
Risk Education and Assessment for Cancer Heredity
Individuals living in geographically underserved areas encounter considerable barriers to access of quality cancer genetic services.
- Conditions
- Breast Cancer, Ovarian Cancer, Genetic Predisposition
- Trial name
- REACH (NCT01346761)
- Testing
- Telephone Genetic Counseling, In-Person Genetic Counseling
- Where
- United States
- Volunteers
- 1,012 people, healthy volunteers welcome
- Sponsor
- University of Utah
Idiopathic Interstitial Pneumonias
Peripheral Blood Biomarkers in Idiopathic Interstitial Pneumonias
We hypothesize that a peripheral blood biomarker or biological signature (gene or protein expression pattern) of idiopathic interstitial pneumonias (IIPs) will simplify and improve the accuracy of diagnosis of IIP and diagnose…
- Trial name
- NCT01151527
- Where
- 2 sites in United States
- Volunteers
- 269 people, healthy volunteers welcome
- Sponsor
- Duke University
Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified
Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
The purpose of this study is to determine whether bilateral orthotopic lung transplantation (BOLT) followed by cadaveric partially-matched hematopoietic stem cell transplantation (HSCT) is safe and effective for patients aged…
- Conditions
- Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified, Severe Chronic Neutropenia, Chronic Granulomatous Disease (CGD)
- Trial name
- BOLT+BMT (NCT01852370)
- Testing
- CD3/CD19 negative allogeneic hematopoietic stem cells
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Paul Szabolcs
Multiple Myeloma
The Aim is to Identify Recurrent Genomic Mutations and/or Predisposing Polymorphisms in Patients With Sporadic Cases of Multiple Myeloma
There is a growing body of data suggesting that the the risk of developing multiple myeloma, or myelomagenesis, is associated with genetic alterations occurring in the tumor cells.
- Trial name
- MMSPORADGEN (NCT05331313)
- Testing
- DNA sequencing
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Hospices Civils de Lyon
Gestational Diabetes, Pregnancy Complications
OneinSeven Gestational Diabetes Genetic and Socioeconomic Risk Study
The objective of the Gestational Diabetes Genetic Socioeconomic Risk Study is to generate genome wide association study data (GWAS) to calculate polygenic risk scores (PRS) for the development of gestational diabetes in pregnant…
- Conditions
- Gestational Diabetes, Pregnancy Complications, Pregnancy Related, Genetic Predisposition
- Trial name
- NCT04789473
- Testing
- Polygenic Risk Score Generation
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Prenome
Ovarian Neoplasm Epithelial, Hereditary Breast and Ovarian Cancer Syndrome
Inherited Susceptible Genes Among Epithelial Ovarian Cancer
Purpose: To investigate the prevalence of the germline mutations in the BRCA 1/2 and mismatch repair genes in patients with epithelial ovarian cancer (EOC) and their relatives, and related somatic mutations in tumor tissues in…
- Trial name
- NCT03015376
- Where
- 2 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Colorectal Cancer, Precancerous Condition
Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis
RATIONALE: Chemoprevention is the use of certain drugs to keep cancer from forming. The use of celecoxib may keep polyps and colorectal cancer from forming in patients with familial adenomatous polyposis.
- Trial name
- NCT00685568
- Testing
- celecoxib
- Where
- 4 sites in United States
- Volunteers
- 22 people
- Sponsor
- M.D. Anderson Cancer Center
Ataxia Telangiectasia, Infections
Susceptibility to Infections in Ataxia Telangiectasia
Death in Ataxia telangiectasia (A-T) is usually due to cancer or chronic lung failure around 20 years of age. Despite low lymphocyte counts (CD3, CD4, CD8 and CD19), IgA and IgG subclass deficiency opportunistic and acute severe…
- Conditions
- Ataxia Telangiectasia, Infections, Immunodeficiency, Lung Disease
- Trial name
- NCT02345135
- Testing
- Blood collection, Lung function measurement, Symptom diary
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Genetic Predisposition, SDH Gene Mutation
Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx Paraganglioma
The main objective of the pilot phase of PGLEXPO will be to assess the faisability and to precise methodology of a case-control study designed for testing the impact of environmental and professional exposures on the tumoral risk…
- Conditions
- Genetic Predisposition, SDH Gene Mutation, Environmental Exposure
- Trial name
- PGL-EXPO-1 (NCT04481152)
- Where
- France
- Volunteers
- 101 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Genetic Predisposition, Breast Cancer
Pre Pectoral Implant for Immediate Breast Reconstruction Using Single Port Endoscopy in Prophylactic Indication
Implant-based reconstruction is currently the most common choice for mastectomy reconstruction. Whatever the choice of mastectomy incision, a scar remains on or near the breast volume.
- Trial name
- MRIMOP (NCT03838549)
- Testing
- Prophylactic mastectomy with immediate breast reconstruction
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Montpellier