Clinical trials: Carrier Screening
Hepatitis B Virus
Validity and Cost-Effectiveness of a New Screening Test for Hepatocellular Carcinoma
The purpose of this study is: 1. To establish and compare the diagnostic utilities for hepatocellular carcinoma (HCC) screening tests of (a) HS-AFP, (b) AFP + US,(c) AFP alone and (d) US alone (within HBV carriers between age 40…
- Trial name
- NCT00912847
- Volunteers
- 1,018 people
- Sponsor
- Chinese University of Hong Kong
Inflammatory Bowel Disease, Hepatobiliary Disease
Risk of Methicillin-resistant S.Aureus (MRSA) Infections in MRSA Carrier Under Introduction of Rapid MRSA Screening
This study was designed to evaluate the effect of a targeted preoperative Methicillin-resistant Staphylococcus aureus (MRSA) detection by polymerase chain reaction (PCR) on either endogenous or exogenous postoperative MRSA…
- Conditions
- Inflammatory Bowel Disease, Hepatobiliary Disease, Pancreas Disease
- Trial name
- NCT01918813
- Testing
- vancomycin, mupirocin ointment
- Where
- Japan
- Volunteers
- 662 people
- Sponsor
- Chikara Tashiro
Tay Sachs Disease, Canavan Disease
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer.
- Conditions
- Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
- Trial name
- NCT01999257
- Testing
- Online pre-test genetic education tool
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Genetic Testing
Evaluation of the Implementation of Expanded Carrier Screening Before Pregnancy in Hong Kong
The objectives are to: 1. Assess patient's views and preferences in receiving expanded carrier screening 2. Perform qualitative study on post testing counselling on screen positive individuals and at risk couples
- Trial name
- NCT02742116
- Testing
- DNA screening before Pregnancy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Ovarian Carcinoma
Prophylactic Salpingectomy With Delayed Oophorectomy
The goal of this clinical research study is to compare ovarian cancer screening, risk-reducing salpingo-oophorectomy (RRSO), and prophylactic salpingectomy with delayed oophorectomy (PSDO).
- Trial name
- NCT01907789
- Testing
- Ovarian Cancer Screening, Prophylactic Salpingectomy with Delayed Oophorectomy, Risk-Reducing Salpingo-Oophorectomy
- Where
- 2 sites in United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Paraganglioma, Pheochromocytoma
Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers
Hereditary paraganglioma -due to SDH (SDHD, SDHB, SDHC) germline mutations- causes paragangliomas and pheochromocytomas. Presymptomatic genetic testing should be offered to all first-degree relatives if an SDH mutation is…
- Trial name
- NCT00188019
- Testing
- diagnosis methods
- Where
- France
- Volunteers
- 248 people
- Sponsor
- University Hospital, Angers
Prostate Cancer
Prostate Screening Study Using MRI in BRCA Carriers
Men with a BRCA1 or BRCA2 mutation are at increased risk for early onset, aggressive prostate cancer compared to men in the general population.
- Trial name
- NCT01990521
- Testing
- MS3TMRI / TRUS Guided Biopsy
- Where
- Canada
- Volunteers
- 60 people
- Sponsor
- Toronto Sunnybrook Regional Cancer Centre
Thalassemia, Iron Deficiency
Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter
β thalassemia is an autosomal recessive hemoglobinopathy and considered as the most widespread genetic mutation. According to the World Health Organization (WHO) between 1.5-7% of the world population are carriers for this…
- Trial name
- NCT00481221
- Testing
- Observation of results from laboratory tests
- Where
- Israel
- Volunteers
- 30,000 people
- Sponsor
- HaEmek Medical Center, Israel
Mutation, Genetic Syndrome
Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers
Pulmonary Veino Occlusive Disease (PVOD) is a rare form of pulmonary arterial hypertension, characterised by a poor prognosis. Recent studies demonstrated that heritable form of pulmonary veino occlusive diseaseis due to…
- Trial name
- DELPHI-4 (NCT03902353)
- Testing
- Screening of adult without diagnosis of PH carrying an heterozygous EIF2AK4 mutation.
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Genetic Disease
Digital Genetic Assistant (DGA) for Expanded Carrier Screening
The DGA provides an end-to-end digital solution to the preconception carrier screening process from participant registration to receipt of the test results and their interpretations.
- Trial name
- NCT04248504
- Testing
- Digital Genetic Assistant
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Igentify Ltd
Thalassemia, Sickle Cell Anemia
Sickle Cell Anemia Screening and Prevention in Northern Israel
Since 1987, a screening for β Thalassemia in pregnant women is carried on in northern Israel, and from 1999 all the samples were tested also for Hgb S, Hgb C, Hgb D, Hgb O Arab and others.
- Trial name
- NCT00735488
- Testing
- Observational
- Where
- Israel
- Volunteers
- 69 people
- Sponsor
- HaEmek Medical Center, Israel
Inherited Genetic Conditions
Preconception Carrier Screening at the Erasmus MC
Rationale A recent advisory report by the 'Health Council' has recommended that all prospective parents should have the opportunity to undergo preconception carrier screening.
- Trial name
- NCT06543784
- Where
- Netherlands
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Erasmus Medical Center
T-Cell Leukemia/Lymphoma, Adult, T-cell Leukemia/Lymphoma
A Study of Mogamulizumab to Prevent Adult T-cell Leukemia/Lymphoma in People With HTLV-1
The purpose of this study is to find out whether the study drug mogamulizumab is effective in preventing the development of adult T-cell leukemia/lymphoma (ATL) in people who are at higher risk for this type of cancer because…
- Conditions
- T-Cell Leukemia/Lymphoma, Adult, T-cell Leukemia/Lymphoma, T-cell Leukemia, Lymphoma
- Trial name
- NCT06698003
- Testing
- Mogamulizumab
- Where
- 7 sites in United States
- Volunteers
- 134 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Hereditary Cancer Syndrome
Feasibility Trial of Combination of Obstetrical Carrier Screening and Hereditary Cancer Screening
The investigators hypothesize that preconception and pregnancy may be a feasible and effective time to offer inherited cancer risk screening.
- Trial name
- FOCUS (NCT07195071)
- Testing
- Natera empower comprehensive hereditary cancer panel, Obstetrical carrier screening
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Hgb C Hemoglobinopathy
Characteristics of Hgb C Carriers in Northern Israel and Clinical Features Among Hgb Homozygous
Hgb C is an hemoglobinopathy quite rare in Israel. The clinical status of patients that are diagnosed as homozygous to this disease is quite benign but not study in large groups.
- Trial name
- NCT00481260
- Testing
- Medical history and basic laboratory analysis
- Where
- Israel
- Volunteers
- 100 people
- Sponsor
- HaEmek Medical Center, Israel
Autosomal Recessive Disorder, Aneuploidy
Prenatal Computer-Aided Genetics Education Module
A standard part of obstetrical care is offering prenatal genetic screening. Numerous professional guidelines have emphasized the importance of pretest counseling for prenatal genetic screenings.
- Trial name
- CAGEM (NCT03449225)
- Testing
- Computer-Aided Genetic Education Module
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Wayne State University
Pulmonary Arterial Hypertension
Screening of Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers
In this prospective study, the investigators will implement a systematic screening program and 3-year follow-up in a cohort of asymptomatic BMPR2 mutation carriers.
- Trial name
- DELPHI-2 (NCT01600898)
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinal Muscular Atrophy (SMA), Carrier Screening
Multi-disease Carrier Screening Test Validation
The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel.
- Conditions
- Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
- Trial name
- NCT01663584
- Testing
- Blood draw
- Where
- United States
- Sponsor
- Natera, Inc.
Hereditary Cancer Syndromes
Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening
The investigators hypothesize that pregnancy and preconception care may be a feasible and effective time to offer inherited cancer risk screening.
- Trial name
- FOCUS (NCT07052266)
- Testing
- MyRisk Hereditary Cancer Test
- Where
- 5 sites in United States
- Volunteers
- 550 people
- Sponsor
- Weill Medical College of Cornell University
BRCA1 Mutation, BRCA2 Mutation
Magnetic Resonance Breast Tissue Characterisation to Improve Risk Stratification for Breast Cancer
This is a combination retrospective/prospective observational study with two arms:
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, Mammography, MRI
- Trial name
- MR-BTC (NCT03684733)
- Testing
- MRI
- Where
- United Kingdom
- Volunteers
- 28 people
- Sponsor
- Royal Marsden NHS Foundation Trust