Clinical trials: Genetic Screening
Donnai-Barrow Syndrome
Metabolic Screening in Patients With Donnai-Barrow Syndrome
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).
- Trial name
- NCT01509287
- Where
- United States
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Colonic Neoplasms
Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer
Correct identification of Lynch syndrome at the time of colorectal cancer presentation is important. We aim to find best ways to screen patients with colorectal cancer in Korea.
- Trial name
- NCT00516230
- Where
- South Korea
- Volunteers
- 200 people
- Sponsor
- Samsung Medical Center
Bone Marrow Transplant, Sickle Cell Disease
Screening for Subjects to Participate in Studies of Blood Disorders
This study will determine eligibility for participation in research studies on blood disorders conducted by the National Heart, Lung and Blood Institute and the National Institute of Diabetes, Digestive, and Kidney Diseases.
- Conditions
- Bone Marrow Transplant, Sickle Cell Disease, G-CSF
- Trial name
- NCT00695123
- Where
- United States
- Volunteers
- 816 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Sickle Cell Disease, Sickle Cell Trait
Transfusion in Sickle Cell Disease: Screening of Sickle Cell Disease Trait in Blood Donors
Bearers of the sickle cell allele (S) are currently eligible for blood donations in Belgium. As blood donors are not tested for this allele, their heterozygous status is unknown.
- Trial name
- NCT03405688
- Testing
- Blood sampling
- Where
- 2 sites in Belgium
- Volunteers
- 173 people
- Sponsor
- Hanane EL KENZ
Hypercholesterolemia, Familial
Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
To test the hypothesis that in patients with a clinical diagnosis of familial hypercholesterolemia (FH), genetic testing and identification of a causative mutation might enhance the success of family-based cascade screening.
- Trial name
- IFIGhTFH (NCT04526457)
- Testing
- Standard of Care, Genetic Testing
- Volunteers
- 240 people
- Sponsor
- University of Pennsylvania
Sickle Cell Disease
The Brigance Assessment Of Individual Neurodevelopment In Young Children With Sickle Cell Disease- 2
A preliminary study was conducted involving 88 three-year-old children with sickle cell disease (SCD) who were followed at the St. Jude Children's Research Hospital Sickle Cell Center.
- Trial name
- NCT01123863
- Testing
- Brigance Preschool Screen -II
- Where
- United States
- Volunteers
- 248 people, healthy volunteers welcome
- Sponsor
- St. Jude Children's Research Hospital
Screening, Aortic Aneurysm and Dissection
A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases
The primary hypothesis is that a tailored programme of genetic and imaging screening of first- and second-degree relatives of patients affected by non-syndromic forms of thoracic aortic diseases will identify individuals at risk…
- Conditions
- Screening, Aortic Aneurysm and Dissection, Genetic Disease
- Trial name
- ReST (NCT03861741)
- Testing
- WES, MRI, TTE
- Where
- United Kingdom
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Leicester
Familial Hypercholesterolemia
Developing and Implementing Familial Hypercholesterolemia Registry
Familial hypercholesterolemia (FH) is a most prevalent genetic disorder define as high cholesterol level and premature death. The prevalence of FH reported in few countries however unknown in Iran.
- Trial name
- NCT02865694
- Testing
- Cascade
- Where
- Iran
- Volunteers
- 500 people
- Sponsor
- Isfahan University of Medical Sciences
Primary Immunodeficiency
Systematic Screening for Primary Immunodeficiencies in Patients Hospitalized for Severe Infections in Intensive Care.
Currently about 90 cases of infection in children are reported every year in pediatric intensive care, a disease considered to be the main cause of hospitalization of children.
- Trial name
- DIPREA (NCT04356053)
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
Turner Syndrome, Ovarian Insufficiency
Cryopreservation of Ovarian Cortex in Girls With Turner Syndrome
Ovarian insufficiency is common in Turner syndrome related to premature and rapid follicular apoptosis and spontaneous pregnancies are rare in this population.
- Trial name
- CRYO-X0 (NCT01410045)
- Testing
- Ovariectomy
- Where
- France
- Volunteers
- 47 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Advanced Malignant Solid Neoplasm, Anatomic Stage III Breast Cancer AJCC v8
Targeted Therapy Directed by Genetic Testing in Treating Patients With Locally Advanced or Advanced Solid Tumors, The ComboMATCH Screening Trial
This ComboMATCH patient screening trial is the gateway to a coordinated set of clinical trials to study cancer treatment directed by genetic testing.
- Conditions
- Advanced Malignant Solid Neoplasm, Anatomic Stage III Breast Cancer AJCC v8, Anatomic Stage IV Breast Cancer AJCC v8, Locally Advanced Malignant Solid Neoplasm
- Trial name
- NCT05564377
- Testing
- Alpelisib, Binimetinib, Biopsy Procedure
- Where
- 484 sites in United States, Puerto Rico
- Volunteers
- 2,900 people
- Sponsor
- National Cancer Institute (NCI)
Congenital Hypothyroidism, L-Thyroxine
Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism
Long term follow-up of the patients with delayed TSH elevation or subclinical hypothyroidism has been seldom reported. The purpose of this study was to explore the diagnostic criteria for subclinical hypothyroidism and the…
- Conditions
- Congenital Hypothyroidism, L-Thyroxine, Follow-Up
- Trial name
- CHRO1 (NCT00497575)
- Sponsor
- Zhejiang University
Primary Cardiomyopathy, Dilated Cardiomyopathy
Risk Stratification in Children and Adolescents With Primary Cardiomyopathy
RIKADA is a prospective study performing systematic family screening including clinical and genetic testing in pediatric patients with primary cardiomyopathy and their first-degree relatives with the aim to facilitate risk…
- Conditions
- Primary Cardiomyopathy, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction
- Trial name
- RIKADA (NCT03572569)
- Where
- 2 sites in Germany
- Volunteers
- 200 people
- Sponsor
- German Heart Institute