Clinical trial NCT04307719: Prevalence of Carriers of Genetic Diseases in the Mexican Jewish Community
Official title: Carriers of Genetic Diseases in the Mexican Jewish Community
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Genetic Predisposition
Carrier, Gestational
Keywords: Carrier Screening
Jewish
Lead sponsor: Anahuac University
Sponsor class: OTHER
First posted: 2020-03-13
Enrollment: 208
Sex: ALL
Minimum age (years): 18
Maximum age (years): 35
Standard ages: ADULT
Accepts healthy volunteers: yes
Observational model: ECOLOGIC_OR_COMMUNITY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Representative sample of the Mexican Jewish Community of child-bearing age, of both sexes.

Brief 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.

Detailed 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.

Eligibility criteria: Inclusion Criteria:

* Jewish Origin in at least 1 grandparent
* Members of one of the Jewish sub-Communities in Mexico City

Exclusion Criteria:

* Pregnant Women

Primary outcomes:
measure: Carrier Status for 300+ Genetic Diseases
timeFrame: 30 days after sample collection
Secondary outcomes:
Other outcomes:
Locations:
city: Huixquilucan
country: Mexico
facility: Universidad Anáhuac México
state: Estado De Mexico
Study officials:
affiliation: Anahuac University
name: Dan Morgenstern-Kaplan, MD
role: PRINCIPAL_INVESTIGATOR
References: