Clinical trials: Predisposition, Genetic
Obesity, Children
Polygenic Risk Score to Predict Weight Loss Intervention in Children With Obesity
Children with obesity are prone to suffering from metabolic diseases, which undoubtedly increases the burden of public health. Since obesity is a multiple gene disease, a comprehensive approach using polygenic risk scores (PRS)…
- Trial name
- NCT05466097
- Where
- Taiwan
- Volunteers
- 300 people
- Sponsor
- Far Eastern Memorial Hospital
Optic Neuritis, Multiple Sclerosis
Early Prediction of Outcomes Following Optic Neuritis: Development and Acceptability of a Prognostic Tool
The goal of this observational study is to determine whether genetic information, together with clinical information, can be used to improve prediction of future multiple sclerosis (MS) diagnosis after a first-time episode of…
- Conditions
- Optic Neuritis, Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, Myelin Oligodendrocyte Glycoprotein (MOG)-Antibody Related Disorders
- Trial name
- MS Predictor (NCT07704294)
- Testing
- No Intervention: Observational Cohort
- Where
- 3 sites in United Kingdom
- Volunteers
- 180 people
- Sponsor
- King's College London
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
Cancer Predisposition Syndromes, Pediatric Cancer
Questionnaire on Congenital Cancer Signs Through Self-Assessment
This clinical trial tests whether a patient- and caregiver-completed questionnaire (QUOCCAS) can accurately help identify children and adolescents with cancer who may have an underlying cancer predisposition syndrome (CPS).
- Conditions
- Cancer Predisposition Syndromes, Pediatric Cancer, Childhood Neoplasms, Hereditary Cancer Syndromes
- Trial name
- QUOCCAS (NCT07378423)
- Testing
- Pre-Visit Preparation (PVP) Brochure, QUOCCAS Questionnaire, Germline genetic sequencing for Cancer Predisposition Syndromes (CPS)
- Where
- Switzerland
- Volunteers
- 205 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
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
Healthy, Hypertrophic Cardiomyopathy
Investigation Into the Use of Ultrasound Technique in the Evaluation of Heart Disease
The human heart is divided into four chambers. One of the four chambers, the left ventricle, is the chamber mainly responsible for pumping blood out of the heart into the circulation.
- Conditions
- Healthy, Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
- Trial name
- NCT00001632
- Where
- United States
- Volunteers
- 195 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Histiocytosis, Langerhans-Cell
Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH)
The long-term goal is to define the mechanisms of pathogenesis underlying Langerhans cell histiocytosis (LCH). The overall objectives of the current study are to characterize the role of SMAD6 inherited genetic variation on LCH…
- Trial name
- NCT04100408
- Testing
- Biospecimen Collection, Laboratory Biomarker Analysis, Questionnaire Administration
- Where
- United States
- Volunteers
- 647 people
- Sponsor
- Children's Oncology Group
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 Diseases, Inborn, Genetic Predisposition to Disease
NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children
The NYCKidSeq program will significantly advance the implementation of genomic medicine, particularly for children, young adults and their families in Harlem and the Bronx.
- Trial name
- NCT03738098
- Testing
- Standard of Care, GUÍA
- Where
- 2 sites in United States
- Volunteers
- 650 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Pediatric Cataract, Congenital Cataract
Shanghai Pediatric Cataract Study
The purpose of this study is to evaluate the long-term visual outcome of the cataract surgery using a large-scale and comprehensive database of pediatric cataract participants, including congenital and traumatic cataract.
- Conditions
- Pediatric Cataract, Congenital Cataract, Traumatic Cataract, Visual Outcome
- Trial name
- NCT03063216
- Testing
- intraocular lens implantation
- Where
- China
- Volunteers
- 10,000 people
- Sponsor
- Evidence Based Cataract Study Group
Polymorphism, Genetic, Bacterial Infections
The Association of Gene Polymorphisms With Invasive Bacterial Infections in Neonates and Young Infants
Invasive bacterial infections (IBIs) are globally significant, with high mortality rates, particularly within the critical 0-3 month age bracket.
- Conditions
- Polymorphism, Genetic, Bacterial Infections, Infant
- Trial name
- NCT06985160
- Testing
- Specific single nucleotide polymorphisms
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Ege University
Metabolic Diseases, Neurological and Mental Health Conditions
Growing Up in Singapore Towards Healthy Outcomes
This study aims to examine the role of genetic and epigenetic factors, maternal nutrition, lifestyle, emotional health, and other environmental factors in pregnancy or postpartum period that can influence future maternal risk of…
- Conditions
- Metabolic Diseases, Neurological and Mental Health Conditions, Genetic Predisposition, Skin Condition
- Trial name
- GUSTO (NCT01174875)
- Where
- Singapore
- Volunteers
- 1,247 people, healthy volunteers welcome
- Sponsor
- National University Hospital, Singapore
Rheumatic Heart Disease, Mitral Stenosis
Genetic Susceptibility to Rheumatic Heart Disease in the Pacific Region
The purpose of this study is to investigate whether there are genetic differences between patients with rheumatic heart disease and members of the general population.
- Trial name
- NCT02188862
- Where
- 3 sites in Fiji, New Caledonia and 1 more
- Volunteers
- 2,372 people, healthy volunteers welcome
- Sponsor
- University of Oxford
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)
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
Brain Tumors
International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma
The study PNET 5 MB has been designed for children with medulloblastoma of standard risk (according to the risk-group definitions which have been used so far; e.g. in PNET 4).
- Trial name
- NCT02066220
- Testing
- Radiotherapy without Carboplatin, Reduced-intensity maintenance chemotherapy, Radiotherapy with Carboplatin
- Where
- 77 sites in Austria, Belgium and 14 more
- Volunteers
- 360 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
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
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
Cystic Fibrosis, Chronic Bronchitis
Standard vs. Biofilm Susceptibility Testing in Cystic Fibrosis (CF)
This was a randomized multi-center clinical trial to compare the microbiological efficacy, clinical efficacy, and safety of using standard versus biofilm susceptibility testing of P.
- Trial name
- NCT00153634
- Testing
- IV amikacin, PO azithromycin, IV ceftazidime
- Where
- 8 sites in United States
- Volunteers
- 75 people
- Sponsor
- Seattle Children's Hospital