Clinical trials: Predisposition, Genetic
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
Modulation by Sex Hormones of Inflammation and Susceptibility to Pseudomonas Aeruginosa in Cystic Fibrosis Airways
The general objective is to elucidate the mechanisms whereby sex hormones may modulate the severity of respiratory disease. An important component of this proposal is a systematic and intensive approach to characterize how the…
- Trial name
- NCT00700050
- Testing
- Hypertonic saline
- Where
- Canada
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Intracranial Aneurysm
Genetic Analysis of Familial Brain Aneurysms
This study will investigate cerebral (brain) aneurysms and their possible inheritance patterns in families. It will try to determine how often brain aneurysms occur in families in which more than one member has had an aneurysm…
- Trial name
- NCT00011856
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Prostate Cancer
A Tailored Polygenic Risk Score for Predicting Progression in Prostate Cancer Under Active Surveillance
Prostate cancer is the most common malignancy in men, and in patients with low-risk disease, active surveillance represents the preferred initial approach to avoid unnecessary treatments.
- Trial name
- PRS-AS (NCT07491406)
- Where
- Italy
- Volunteers
- 185 people
- Sponsor
- IRCCS San Raffaele
Rare Diseases, Genetic Predisposition to Disease
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).
- Trial name
- GE-MED (NCT04760522)
- Testing
- WGS Diagnostic: Blood take for genetic diagnostic
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
Stomach Neoplasms, Stomach Cancer
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers.
- Conditions
- Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC)
- Trial name
- NCT03030404
- Where
- United States
- Volunteers
- 733 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Acromegaly, Gigantism
Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA
The research is aimed at identifying new predisposition genes for endocrine tumours. Our focus initially is on pituitary adenomas including growth hormone-secreting tumors (somatotrophinomas) and prolactin secreting tumours…
- Conditions
- Acromegaly, Gigantism, Familial Isolated Pituitary Adenoma, FIPA
- Trial name
- NCT00461188
- Where
- 3 sites in United Kingdom
- Volunteers
- 10,000 people
- Sponsor
- Barts & The London NHS Trust
Recurrent Childhood Kidney Neoplasm, Stage I Kidney Wilms Tumor
Gene Analysis in Studying Susceptibility to Wilms Tumor
This clinical trial studies gene analysis in studying susceptibility to Wilms tumor. Finding genetic markers for Wilms tumor may help identify patients who are at risk of relapse.
- Conditions
- Recurrent Childhood Kidney Neoplasm, Stage I Kidney Wilms Tumor, Stage II Kidney Wilms Tumor, Stage III Kidney Wilms Tumor
- Trial name
- NCT01808079
- Testing
- Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Children's Oncology Group
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
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)
Immune Deficiencies
Detection and Characterization of Infections and Infection Susceptibility
This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders.
- Trial name
- NCT00404560
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Genetic Predisposition
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Background: The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or…
- Trial name
- NCT01375543
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Myocarditis, Ventricular Arrhythmia
Role of Endomyocardial Biopsy and Aetiology-based Treatment in Pediatric Patients with Inflammatory Heart Disease in Arrhythmic and Non-arrhythmic Clinical Presentations: an Integrated Approach for the Optimal Diagnostic and Therapeutic Management (MYOPED)
Myocarditis is a complex inflammatory disease, usually occurring secondary to viral infections, autoimmune processes or toxic agents.
- Conditions
- Myocarditis, Ventricular Arrhythmia, Inflammatory Cardiomyopathy, Genetic Predisposition
- Trial name
- MYOPED (NCT06591260)
- Testing
- support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Scientific Institute San Raffaele
Gastric Cancer, Genetic Predisposition
Research for Associated Genes for Gastric Cancer in Family Member With Affected First-Degree Relatives
Familial gastric cancer accounts for 10% of all cases, but predisposing genetic variations is unknown except for CDH1 mutation. Because Germline mutation is believed to be a key aspect of cancer predisposition, we plan to recruit…
- Trial name
- NCT03486574
- Testing
- Positive result from pathological test
- Where
- South Korea
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Seoul National University Bundang Hospital
Li-Fraumeni Syndrome
Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes
This study is evaluating Whole Body MRI as a possible screening tool to diagnose cancer for people with LFS and other inherited cancer predisposition syndromes.
- Trial name
- NCT02950987
- Testing
- Whole Body MRI
- Where
- 3 sites in United States
- Volunteers
- 150 people
- Sponsor
- Dana-Farber Cancer Institute
Childhood Cancer, Genetic Predisposition
Genetic Risks for Childhood Cancer Complications in Switzerland
The objectives of the GECCOS project are to identify genetic variants associated with complications of childhood cancer using genotype-phenotype association studies.
- Conditions
- Childhood Cancer, Genetic Predisposition, Late Effect
- Trial name
- GECCOS (NCT04702321)
- Testing
- Procedure: Biospecimen Collection, Procedure: Medical Chart Review
- Where
- Switzerland
- Volunteers
- 6,000 people
- Sponsor
- University Hospital, Geneva
Hereditary Neoplasms, Cancer
Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer
This is a clinical, epidemiologic, genetic, and laboratory study of individuals and families at high risk of cancer and selected tumors to investigate the genetic susceptibility and environmental exposures which may alter cancer…
- Conditions
- Hereditary Neoplasms, Cancer, Genetic Predisposition to Cancer, Environment
- Trial name
- NCT00001163
- Where
- United States
- Volunteers
- 5,201 people
- Sponsor
- National Cancer Institute (NCI)
Rare Diseases, Genetic Predisposition
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT…
- Trial name
- DiRiP-RD (NCT03491280)
- Testing
- NGS Diagnostic
- Where
- Germany
- Volunteers
- 5,500 people
- Sponsor
- University Hospital Tuebingen
Nephrolithiasis
Genetic Study of Nephrolithiasis in Gouty Diathesis
Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria…
- Trial name
- NCT00149305
- Testing
- Genetic analyses
- Where
- Italy
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research