Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
Recruitment status was Not yet recruiting
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.
Fragile X Syndrome
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay|
In some cases, the de-identified, residual saliva specimen may be used in quality assurance; it may be used in clinical testing as a control; it may be used for future research studies.
|Study Start Date:||July 2012|
|Estimated Study Completion Date:||December 2012|
|Estimated Primary Completion Date:||December 2012 (Final data collection date for primary outcome measure)|
Fragile X full mutation (affected)
Individual whose previous blood specimen was tested at Esoterix Genetic Laboratories and molecular analysis for fragile X revealed >200 CGG repeats with abnormal methylation pattern; interpretation is full mutation for fragile X syndrome
Fragile X premutation (carriers)
Individual whose previous blood specimen was tested at Esoterix Genetic Laboratories and molecular analysis for fragile X revealed 55-200 CGG repeats with normal methylation pattern; interpretation is premutation carrier of fragile X syndrome
Fragile X intermediate
Individual whose previous blood specimen was tested at Esoterix Genetic Laboratories and fragile X molecular analysis revealed 45-54 CGG repeats; interpretation is intermediate, not a carrier of a fragile X expansion mutation
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01616589
|Contact: Naomi Nakata, MA||310 firstname.lastname@example.org|
|United States, Massachusetts|
|Integrated Genetics||Not yet recruiting|
|Westborough, Massachusetts, United States, 01581|
|Contact: Naomi Nakata, MA 310-482-5561 email@example.com|
|Principal Investigator:||Thomas Scholl, PhD||Esoterix Genetic Laboratories, LLC|