Clinical trials: Carrier Screening
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
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
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
Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal…
- Conditions
- Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia, Colon Cancer
- Trial name
- NCT00154960
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Spinal Muscular Atrophy
Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System
In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitative and multiplex PCR…
- Trial name
- NCT00155168
- Where
- Taiwan
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
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
X-Linked Genetic Diseases, Autosomal Recessive Disorder
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal…
- Trial name
- NCT04157595
- Testing
- Reproductive Genetic Carrier Screening
- Where
- 24 sites in Australia
- Volunteers
- 18,302 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
Spinal Muscular Atrophy, Duchenne Muscular Dystrophy
Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices
The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals…
- Conditions
- Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Healthy Individuals
- Trial name
- NCT05110885
- Testing
- Questionnaire
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Bahçeşehir University
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
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
Genetic Predisposition, Carrier, Gestational
Prevalence of Carriers of Genetic Diseases in the Mexican Jewish Community
The Jewish Population is at an increased risk for genetic diseases, especially autosomal recessive, thus, screening should be done to determine carrier status of several genetic diseases.
- Trial name
- NCT04307719
- Where
- Mexico
- Volunteers
- 208 people, healthy volunteers welcome
- Sponsor
- Anahuac University
Enterobacteria Non Susceptible to Carbapenem Carrier, Enterobacteria Susceptible to Carbapenem Carrier
Carbapenem-resistant Enterobacteriaceae: Prevalence, Risk Factors and Impact of the Use of the Phenotypic Algorithm for the Detection of Carbapenemases
The non-susceptibility of enterobacteriaceae isolates to carbapenem (CARBA) is an emerging concern with a high impact on infectious disease therapy.
- Trial name
- E-CARB (NCT02127450)
- Where
- France
- Volunteers
- 525 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Diagnoses Disease
Evaluation of HemoTypeSC as a Novel Rapid Test for Point-of-Care Screening for Sickle-Cell Disease, Hemoglobin C Disease, and Carrier Status in Low-Resource Settings
Sickle cell disease is a life-threatening genetic disorder that can be effectively treated following early diagnosis via newborn screening.
- Trial name
- NCT03619798
- Testing
- HemoTypeSC
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Silver Lake Research Corporation
Spinal Muscular Atrophy
Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG).
- Trial name
- NCT04859179
- Where
- Thailand
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Mahidol University
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