Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

Fragile X Syndrome Clinical Trial

Official title:

Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT01616589
• Other study ID #: GGFX0001
• Status: Not yet recruiting
• Phase: N/A
• First received: June 7, 2012
• Last updated: June 7, 2012
• Start date: July 2012
• Est. completion date: December 2012

Study information

• Verified date: June 2012
• Source: Esoterix Genetic Laboratories, LLC
• Contact: Naomi Nakata, MA
• Phone: 310 482-5561
• Email: naomi.nakata[@]integratedgenetics.com
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial Summary

The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.

Description:

Saliva samples will be prospectively collected from subjects who have previously been tested by Esoterix Genetic Laboratories, LLC using blood specimens and diagnosed as fragile X intermediates, premutations (carriers) or full mutations (affected). Results from fragile X testing with saliva will be compared to results from the blood sample that was previously submitted to Esoterix Genetic Laboratories for testing.

Data from this study will be used for regulatory submissions.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 100
• Est. completion date: December 2012
• Est. primary completion date: December 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Subject has previously been identified through molecular testing at Esoterix Genetic Laboratories as a Fragile X intermediate, premutation (carrier) or full mutation (affected).

• In the opinion of the subject's physician, the subject is medically stable and able to provide the required quantity of saliva.

• If Subject is at least 18 years of age:

• Subject must be willing to give written informed consent

• Subject must be willing to comply with the collection procedure

• If Subject is under 18 years of age, the legally authorized representative must give written informed consent and agree to comply with study procedures.

Exclusion Criteria:

• Subject has been determined to be an individual with a normal FMR1 gene.

• Subject has a known medical condition that would cause risk to the donor or, if relevant, the fetus as a result of saliva collection.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Fragile X Syndrome

Locations

Country	Name	City	State
United States	Integrated Genetics	Westborough	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
Esoterix Genetic Laboratories, LLC

Country where clinical trial is conducted

United States,