Clinical trials: Genetic Predisposition to Disease
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
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)
Multiple Anomalies of Fetus, Genetic Predisposition Suspected
AMNIOmics: A Prenatal Rapid Genome Validation Study
The purpose of this study is to validate Whole Genome Sequencing (WGS) on amniotic fluid to reduce the time to diagnosis and enhance the care for the fetus/neonate.
- Conditions
- Multiple Anomalies of Fetus, Genetic Predisposition Suspected, Amniocentesis Affecting Fetus or Newborn, Family Members
- Trial name
- NCT05834621
- Sponsor
- Mayo Clinic
Lead Poisoning
Exposure, Dose, Body Burden and Health Effects of Lead
This is a study of the effects that lead has on the health of the central nervous system (for example, memory), peripheral nervous system (for example, sensation and strength in the hands and fingers), kidneys, blood pressure…
- Trial name
- NCT00013819
- Volunteers
- 944 people, healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Spina Bifida, Anencephaly
Study of Genetic Risk Factors for Spina Bifida and Anencephaly
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying…
- Trial name
- SBRR (NCT00031122)
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Cancer
Physicians Survey on Genetic Testing
Research and development in genetic testing for cancer susceptibility genes has advanced rapidly in recent years, allowing healthy individuals, cancer patients, and their families to determine if they carry mutations which…
- Trial name
- NCT00341107
- Volunteers
- 1,350 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases.
- Conditions
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance.
- Trial name
- NCT01995305
- Testing
- human whole exome, whole genomic
- Where
- China
- Sponsor
- Xiaofan Zhu
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
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
Atypical Femoral Fractures, Osteoporosis
Exome Sequencing for Atypical Femoral Fractures
The purpose of this study is to determine whether women who have atypical subtrochanteric and diaphyseal femoral fractures after treatment with bisphosphonates for osteoporosis, have a genetic predisposition to these unusual…
- Conditions
- Atypical Femoral Fractures, Osteoporosis, Bisphosphonate Therapy
- Trial name
- NCT02731040
- Testing
- Bisphosphonate
- Volunteers
- 38 people
- Sponsor
- Washington University School of Medicine
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
Acute Lymphoblastic Leukemia, Nutrition Aspect of Cancer
InterNatIonal CHildhood Leukemia Microbiome/MEtabolome Cohort
Nutritional status is a measurable and modifiable factor that is often not considered during treatment and its clinical impact undervalued due in part to the heavy demands on clinicians in low and middle income countries to…
- Conditions
- Acute Lymphoblastic Leukemia, Nutrition Aspect of Cancer, Microtia, Genetic Predisposition
- Trial name
- NICHE (NCT05929976)
- Testing
- No intervention
- Where
- 8 sites in United States, Brazil and 4 more
- Volunteers
- 4,900 people
- Sponsor
- Columbia University
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
Rare Diseases, Genetic Predisposition to Disease
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome…
- Trial name
- NCT04315727
- Testing
- WGS Diagnostic Blood take for genetic diagnostic., Hair collection
- Where
- 2 sites in Germany
- Volunteers
- 100 people
- Sponsor
- University Hospital Tuebingen
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
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
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
Neurotoxicity Syndrome, Cassava, Neurotoxicity Syndrome, Cyanate
Cassava Intervention Project
Investigators will implement a novel cassava processing method (wetting method, WTM) that safely removes cyanogenic compounds from cassava flour prior to human consumption in a stratified village-cluster randomized…
- Conditions
- Neurotoxicity Syndrome, Cassava, Neurotoxicity Syndrome, Cyanate, Neurotoxicity Syndrome, Cyanide, Neurotoxicity Syndrome, Thiocyanate
- Trial name
- NCT03157336
- Testing
- Non Inferiority WTM Interventional Trial
- Where
- Democratic Republic of the Congo
- Volunteers
- 1,200 people
- Sponsor
- Ministry of Public Health, Democratic Republic of the Congo
Asthma in Children, Allergy in Children
Project 500 CHILD Study
This proposal relates to the testing of several specific hypotheses in a subset of 500 participants in the Canadian Healthy Infant Longitudinal Development (CHILD) Study.
- Conditions
- Asthma in Children, Allergy in Children, Environmental Exposure, Genetic Predisposition
- Trial name
- NCT03225534
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- McMaster University
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