Prevalence of Carriers of Genetic Diseases in the Mexican Jewish Community

Status Completed

Clinical Trial Summary

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. In the Mexican Jewish Community, which is a very diverse community (regarding geographical origins), data of carrier status is unknown. The study aims to determine carrier prevalence for over 300 diseases using commercially available panels.

Clinical Trial Description

Background: Preconceptional screening of genetic diseases is currently a underused and very useful tool, especially in populations that are at risk to be carriers of genetic diseases, such as the Jewish people, with carrier rates as high as 1:4 for any autosomal recessive disease. The Mexican Jewish Community is one of these populations at-risk, and there is no modern genetic research of the carrier rates in this community. Goals: This research project in the Mexican Jewish Community aims to determine the prevalence of carriers in the community in order to properly generate in the future, a systematic carrier screening in the community. Research Plan: The investigators propose a descriptive, observational, cross-sectional study, in which a representative sample of the Mexican Jewish Community (Which composes of Ashkenazi, Sephardic and Middle-Eastern Jews) of 250 patients, in which we´ll collect a saliva sample with a collection kit. Furthermore, the sample will be sent to a private commercial laboratory to perform the Comprehensive Carrier Screening to analyze the 301 genes included in the test plus the 13 add-on genes. Analysis: Other demographic variables will be collected from the patients at the time of the sample collection to identify possible risk factors (geographical origin, number of Jewish grandparents, history of genetic diseases, et. al) and a correlation analysis will be performed to verify the strength of those risk factors on the carrier status of the patients. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT04307719
Study type	Observational [Patient Registry]
Source	Anahuac University
Contact
Status	Completed
Phase
Start date	July 1, 2020
Completion date	April 19, 2021

View Details

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Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.