Clinical trials: Carrier Screening
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
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
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
Screening Breast MRI in Patients Who Are BRCA Mutation Carriers
Rapid Pancreatic and Ovarian Screening MR Imaging With Motion Corrected T1, T2, and Advanced Diffusion Weighted Imaging for Patients With BRCA Mutation Who Undergo Screening Breast MRI
The purpose of this study is to create a rapid scan of the pancreas and ovaries that could be used in the future to screen patients at risk for pancreatic or ovarian cancers.
- Trial name
- NCT02462460
- Testing
- MRI, Optional Screening Questionnaire
- Where
- United States
- Volunteers
- 63 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
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
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
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
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
Genetic Disease
The Use of 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
- NCT04014114
- Testing
- Digital Genetic Assistant
- Volunteers
- 600 people
- Sponsor
- Igentify Ltd
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