Clinical trials: Genetics Predisposition
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
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
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
Cancer, Hereditary Neoplasms
Rare Tumors and Cancer Predisposition in Individuals and Families
Background: Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment they live and work in.
- Conditions
- Cancer, Hereditary Neoplasms, Genetic Predisposition to Cancer, Environment
- Trial name
- NCT05350761
- Where
- 2 sites in United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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
Bronchiectasis, Cystic Fibrosis
Natural History of Bronchiectasis
Bronchiectasis is a chronic inflammatory and muco-obstructive condition that results in abnormal dilation of the airways, decline in lung function, frequent exacerbations, and chronic respiratory tract infections.
- Conditions
- Bronchiectasis, Cystic Fibrosis, Autoimmune Disease, Common Variable Immunodeficiency
- Trial name
- NCT00943514
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Nephrolithiasis
Genetic Study of Nephrolithiasis in Gouty Diathesis
Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria…
- Trial name
- NCT00149305
- Testing
- Genetic analyses
- Where
- Italy
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Type 1 Diabetes
Genome-wide Association Study of Different Types of Diabetes and Construction of Genetic Risk Score
To enhance the genetic profile of T1D patients in China and construct a Chinese-specific GRS and evaluated its ability to differentiate between T1D and controls, as well as between T1D and T2D.
- Trial name
- NCT06791330
- Volunteers
- 7,000 people
- Sponsor
- Second Xiangya Hospital of Central South University
Malignant Hyperthermia
Screening of Malignant Hyperthermia Susceptible Individuals
This study intends to target patients who underwent surgery under general anesthesia during the study period and developed malignant hyperthermia during or after surgery.
- Trial name
- NCT05402839
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Peking University Third 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
MRI Scans
Quantitative Susceptibility Mapping (QSM) to Guide Iron Chelating Therapy
The overall goal of this research is to help develop a new magnetic resonance (MR) method, Quantitative Susceptibility Mapping (QSM), to improve the measurement of liver iron concentrations without the need for a liver biopsy.
- Trial name
- NCT04171635
- Testing
- Quantitative Susceptibility Mapping (QSM) Magnetic Resonance Imaging (MRI), R2* Magnetic Resonance Imaging (MRI)
- Where
- 2 sites in United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
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
Listeriosis
Genetic Susceptibility to Listeriosis
Listeriosis is a rare, severe foodborne infection, responsible for severe invasive infections. It occurs in the great majority of cases in elderly patients and / or patients with comorbidities, with a deficit of innate or…
- Trial name
- Listeria-GEN (NCT03357536)
- Testing
- Human biological samples
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Institut Pasteur
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
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
Non-Medullary Thyroid Cancer
Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer
Background: Researchers are studying types of thyroid cancer that seem to cluster in families. Non-medullary thyroid cancer accounts for the vast majority of all types of thyroid cancer, but little is known about possible genes…
- Trial name
- NCT01109420
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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)
Rare Diseases, Genetic Predisposition to Disease
Genetic Causes of Discrepant Clinic in Monogenic Twins
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or…
- Trial name
- DISCO-TWIN (NCT04046796)
- Testing
- NGS Diagnostic
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- University Hospital Tuebingen