Clinical trials: Genetic Predisposition
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
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Cannabis Use, Neurocognitive Dysfunction
Prospective Evaluation on Cognitive Function and Its Associated Genetic Vulnerability in Cannabis Users
Most of the studies assessing Cannabis Use Disorder (CUD) and neurocognitive functions are cross-sectional without examining the longitudinal changes in neurocognitive function at a within-subject level with respect to the…
- Conditions
- Cannabis Use, Neurocognitive Dysfunction, Genetic Predisposition
- Trial name
- SToP-C_PeCoG (NCT04373525)
- Testing
- Genome analysis
- Where
- Hong Kong
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Lung Cancer
Genetic Susceptibility to Lung Cancer in Never Smokers
The purpose of this study is to help us better understand the cellular changes that may lead to the development of lung cancer. We want to compare people who have never smoked and yet have been diagnosed with lung cancer to never…
- Trial name
- NCT00597636
- Testing
- Questionaire, blood sample
- Where
- United States
- Volunteers
- 238 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Primary Immunodeficiency, DOCK8
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Background: National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in…
- Conditions
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- Trial name
- NCT00895271
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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)
Kidney Neoplasms, Kidney Cancer
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer.
- Conditions
- Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
- Trial name
- NCT00033137
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cancer
Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer
This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for…
- Trial name
- NCT03922893
- Testing
- Family History Information, ORAGENE, Blood
- Where
- 7 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Predisposition, Genetic, Cancer
Investigating the Role of Genetics in Disease Predisposition
Gametogenesis is the production of sperm and eggs; it takes place through the process of meiosis. Gametogenesis is subject to the acquisition of mutations as with other processes in the body.
- Conditions
- Predisposition, Genetic, Cancer, Mutation, Fertility Disorders
- Trial name
- NCT06584994
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders
Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
This study aims to quantify intracerebral iron load in patients with Beta-Propeller Protein-Associated Neurodegeneration (BPAN) using Quantitative Susceptibility Mapping (QSM) technique.
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders, Brain Disease
- Trial name
- QUBIPAN (NCT07868120)
- Testing
- Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
- Where
- France
- Volunteers
- 3 people
- Sponsor
- University Hospital, Bordeaux
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
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
Hereditary Disease, Genetic Predisposition to Disease
Genomic Sequencing for Childhood Risk and Newborn Illness
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.
- Trial name
- NCT02422511
- Testing
- Genomic sequencing, Family history report
- Where
- 2 sites in United States
- Volunteers
- 1,205 people
- Sponsor
- Brigham and Women's Hospital
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
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
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
Bladder Cancer
Genetic Susceptibility to Bladder Cancer
This clinical research study will identify biologic and lifestyle factors which increase a person's risk of developing specific cancer.
- Trial name
- NCT00848289
- Testing
- Interviews
- Where
- 2 sites in United States
- Volunteers
- 6,086 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
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
Melanoma, Skin Cancer
A Model for Genetic Susceptibility: Melanoma
The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one…
- Trial name
- NCT00591500
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,082 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Birth Defects, Cleft Palate
Svangerskap, Arv, Og Miljo (Pregnancy, Heredity and Environment)
This proposal describes a population-based case-control study of all Norwegian infants born with cleft lip or palate over a five-year period. The study will be jointly supported by the U.S.
- Conditions
- Birth Defects, Cleft Palate, Cleft Lip
- Trial name
- NCT00340977
- Where
- 2 sites in Norway
- Volunteers
- 4,091 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)