Clinical trials: Genetic Predisposition
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
Pediatric Cancer, Predisposition, Genetic
Psychosocial Impact of Disclosing Cancer Predisposition Genetic Testing Results During Childhood
The participants are being asked to take part in this research study because the participant is a child who has been diagnosed with cancer and has completed genetic testing to find out if the participant has a variant in a gene…
- Trial name
- NCT04848142
- Where
- United States
- Volunteers
- 199 people
- Sponsor
- St. Jude Children's Research Hospital
Genetic Predisposition
Initiative for Clinical Long-read Sequencing
The study aims to comprehensively introduce Long-read Genome sequencing (LR-GS) based genetic testing into clinical routine. In order to demonstrate the superiority of untargeted LR-GS over Short-read Genome sequencing (SR-GS) to…
- Trial name
- IonGER (NCT06060184)
- Testing
- Next-Generation Sequencing (NGS)
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- University Hospital Tuebingen
Breast Cancer, Genetic Susceptibility
ScreenIng of Genetic Susceptibility Genes for Breast Cancer Patients in CHinese communiTies
This is a community-based prospective study and the research object is breast cancer patients. It is planned to take the community as the unit to inform and collect the breast cancer patients who voluntarily participate to carry…
- Trial name
- SIGHT (NCT04265937)
- Where
- China
- Volunteers
- 5,000 people
- Sponsor
- Fudan University
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
Paraganglioma, Pheochromocytoma
Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study
Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late.
- Conditions
- Paraganglioma, Pheochromocytoma, Genetic Predisposition to Disease, Pathology
- Trial name
- PPGL-Pred (NCT04788927)
- Where
- 2 sites in Denmark
- Volunteers
- 400 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
Prostate Cancer, Genetic Predisposition
In Situ Clonal Heterogeneity in Prostatic Diagnostic Biopsies
This is a retrospective, proof of concept study, which aims at reconstructing the cellular heterogeneity of the tumor in multi-needle diagnostic prostate biopsy as well as any biopsy containing potentially pre-malignant tissue…
- Trial name
- NCT04873427
- Testing
- clonal heterogeneity evaluation
- Where
- Switzerland
- Volunteers
- 40 people
- Sponsor
- Clinica Luganese Moncucco
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Rare Diseases, Genetic Predisposition
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio…
- Trial name
- NCT03954652
- Testing
- WGS-Diagnostic
- Where
- Germany
- Volunteers
- 1,350 people
- Sponsor
- University Hospital Tuebingen
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
Fractures in Children, Apophysitis
Total Genotype Score, Growth, Maturation and Loading Exposure as Risk Factors for Injury in Elite Male Youth Football
A total genotype risk score was generated based on the findings of previous research for non-contact injury, non-contact muscle injury, tendon injury, ligament injury, fracture injury and apophysitis injury.
- Conditions
- Fractures in Children, Apophysitis, Muscle Strain, Ligament Injury
- Trial name
- NCT05220969
- Testing
- Total Genotype Risk Score
- Where
- 2 sites in United Kingdom
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- St Mary's University College
Diabetes Mellitus, Type 1
TRIGR - Primary Prevention Study for Type 1 Diabetes in Children at Risk
The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) is an international effort to conduct a primary prevention nutrition trial for type 1 (insulin-dependent) diabetes.
- Trial name
- TRIGR (NCT00179777)
- Testing
- Hydrolysed infant formula, Nonhydrolysed infant formula
- Where
- 18 sites in United States, Australia and 13 more
- Volunteers
- 5,156 people
- Sponsor
- University of Helsinki
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
Asthma
Genetic Susceptibility to Childhood Respiratory IIlness in Mexico City
We propose to add a collection of genetic material to a clinical trial of anti-oxidant supplementation for the amelioration of asthma in 7-12 year olds being conducted at a public pediatric hospital in Mexico City.
- Trial name
- NCT00339521
- Where
- Mexico
- Volunteers
- 2,362 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Indirect Inguinal Hernia, Genetic Predisposition to Disease
Gene Expression and DNA Variation Analysis of Sacs to Identify the Pathophysiology of Indirect Inguinal Hernia
The aim of the project is to show that gene expression levels change in at least one of the GATA6 and T-box transcription factor 3 (TBX3) genes in indirect inguinal hernia sacs, thus revealing that this pathway causes an error in…
- Trial name
- NCT04634032
- Testing
- mRNA expression and SNP analysis, Blood sampling
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Trakya University
Hereditary Disease, Genetic Predisposition to Disease
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
The study "Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder" is a research study that aims to explore the use of whole genome sequencing as a potential first…
- Trial name
- NCT03829176
- Testing
- Whole Genome Sequencing
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Massachusetts General Hospital
Confirmed Diagnosis of Cystic Fibrosis
Impact of Early Lung Physiology, Viral Infections and the Microbiota on the Development and Progression of Lung Disease in Children With Cystic Fibrosis
This study collects data on microbiological factors and lung function parameters (e.g. spirometry, body plethysmography, lung-MRI) to assess their interaction on the lung growth and lung development of infants and children with…
- Trial name
- SCILD (NCT04026360)
- Testing
- no intervention
- Where
- Switzerland
- Volunteers
- 500 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Genetic Predisposition to Disease, Celiac Disease
Gluten-free Diet in Gluten-genetically Predisposed Subjects
Undetected or untreated CD may cause severe complications later in life, such as autoimmune disorders. It is recommended for subjects with autoimmune diseases or at risk for CD to be screened for CD and to repeat serological…
- Trial name
- NCT00677495
- Testing
- Gluten-free diet
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- IRCCS Burlo Garofolo
Ketamine Abuse, Psychotic Disorders
Substance Misuse To Psychosis for Ketamine (SToP-K)
Evidence suggests that repeated or chronic ketamine use, as compared to acute ketamine users, posed a higher clinical risk of developing psychotic disorders, potentially related to the underlying chronic N-methyl-D-aspartate…
- Conditions
- Ketamine Abuse, Psychotic Disorders, Substance Use Disorders, Schizophrenia
- Trial name
- NCT03485339
- Testing
- genome testing
- Where
- 2 sites in Hong Kong
- Volunteers
- 162 people
- Sponsor
- The University of Hong Kong