Clinical trials: Genetic Susceptibility
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Coronary Heart Disease, Type 2 Diabetes
Returning Genome and Metabolome Data to FinTerveys 2017 Participants: P5.fi FinTerveys Study
P5.fi study - P4 together with a fifth 'P' and '.fi' for population health Finally Implemented in Finland - studies the value of returning genetic and metabolomic risk information in two diseases (coronary heart disease and type…
- Conditions
- Coronary Heart Disease, Type 2 Diabetes, Deep Vein Thrombosis
- Trial name
- P5 (NCT03650127)
- Where
- Finland
- Volunteers
- 3,449 people, healthy volunteers welcome
- Sponsor
- Markus Perola
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
Overweight, Obesity
Anti-inflammatory Dietary Intervention in Overweight and Obese Adolescents
The number of overweight and obese children has increased in Ireland at a greater rate than worldwide trends. The poor eating patterns that drive adolescent obesity leads to an increase in the number of unhealthy inflammatory…
- Trial name
- NCT01665742
- Testing
- Supplement containing fish oil, vitamin C, alpha-tocopherol, green tea extract and lycopene
- Where
- 3 sites in Ireland
- Volunteers
- 58 people
- Sponsor
- University College Dublin
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
Hypertension
Blood Pressure Follow-up Study in Two Chinese Cohorts(C-BPCS)
Essential hypertension is a complex trait which results from interaction between environmental factors and genetic factors. The aim of this study is to investigate the effects of interaction between environmental factors and…
- Trial name
- C-BPCS (NCT02734472)
- Testing
- Incidence and risk factors of hypertension
- Where
- China
- Volunteers
- 5,298 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Genetic Disease, Genetic Syndrome
Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders.
- Conditions
- Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant
- Trial name
- NCT03967743
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- Boston Children's Hospital
Neurofibromatosis 1, Peripheral Nerve Neoplasms, Malignant
Incidence of Malignant Peripheral Nerve Sheath Tumor (MPNST) Development in Participants With Neurofibromatosis Type 1 (NF1) Receiving and Not Receiving Medical Therapies Directed at Plexiform Neurofibromas (PN)
Background: NF1 is a genetic syndrome. Tumors appear early in life. Many people with NF1 develop PN. These tumors can become an aggressive cancer called MPNST.
- Trial name
- NCT04774289
- Where
- United States
- Volunteers
- 296 people
- Sponsor
- National Cancer Institute (NCI)
Crohn's Disease, Genetic Predisposition
Abnormal Fecal Microbiota in Healthy Subjects at High Risk for Crohn's Disease
Transversal multicentric French study on the microbiota in patients with Crohn's disease and their first degree healthy relatives The primary objective is the comparison of microbiota between patients with CD, healthy controls…
- Trial name
- MAGIC (NCT02826330)
- Testing
- biomarkers
- Where
- 10 sites in France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Pediatric Disorder, Genetic Predisposition
Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
This study looks at how a medicine called trihexyphenidyl works in children with dystonic cerebral palsy. The study aims to understand how trihexyphenidyl is broken down and used in the body of pediatric patients and whether this…
- Conditions
- Pediatric Disorder, Genetic Predisposition, Dystonia, Secondary, Dystonia
- Trial name
- TRIKE2 (NCT06554288)
- Testing
- Trihexyphenidyl
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
COVID-19, Genetic Predisposition
The Fondazione Genomic SARS-CoV-2 Study COVID-19
Genetic association at the genomic level (genomewide association study - GWAS), requencing by NGS (whole exome sequencing) and gene expression studies to identify the main ones hereditary genetic determinants of predisposition to…
- Trial name
- FOGS (NCT06549712)
- Testing
- genetic determinants to develop respiratory failure
- Where
- Italy
- Volunteers
- 4,000 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
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
Genetics Disease, Genetics/Birth Defects
VIGOR: Virtual Genome Center for Infant Health
This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement…
- Conditions
- Genetics Disease, Genetics/Birth Defects, Genetic Predisposition to Disease
- Trial name
- NCT05205356
- Where
- 10 sites in United States
- Volunteers
- 631 people
- Sponsor
- Boston Children's Hospital
Pelvic Organ Prolapse
Do Patients With Early Post Operative Recurrence of Pelvic Organ Prolapse Have a Genetic Predisposition?
The objective is to explore the genetic predisposition to early pelvic organ prolapse after adequate surgical repair by exploring the association between pelvic organ prolapse recurrences and certain polymorphisms.
- Trial name
- NCT01614587
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Atlantic Health System
Medulloblastoma, Central Nervous System Tumor, Pediatric
Genetic and Molecular Risk Profiles of Pediatric Malignant Brain Tumors in China
Primary malignant central nervous system (CNS) tumors are the second most common childhood malignancies. Amongst, medulloblastomas are the most common malignant brain tumor of childhood and occur primarily in the cerebellum.
- Conditions
- Medulloblastoma, Central Nervous System Tumor, Pediatric, Ependymoma, Germ Cell Tumor
- Trial name
- GRIPP (NCT05672043)
- Where
- China
- Volunteers
- 400 people
- Sponsor
- Beijing Tiantan Hospital
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
Genetic Disease, Cancer
Educational Video for Genetic Testing
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
- Trial name
- NCT05472714
- Testing
- Educational Video
- Where
- United States
- Volunteers
- 359 people
- Sponsor
- Children's Hospital of Philadelphia
Cerebral Palsy
Genetic Predisposition in Cerebral Palsy
Cerebral palsy (CP) is a major neurodevelopmental disorder with an estimated prevalence of approximately one in 500 children. It is characterised by permanent developmental disorders of movement and posture, responsible for…
- Trial name
- PREGENE PC (NCT05317234)
- Testing
- Whole-exome sequencing
- Where
- 2 sites in France
- Volunteers
- 250 people
- Sponsor
- Hospices Civils de Lyon
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