Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01616589|
Recruitment Status : Unknown
Verified June 2012 by Esoterix Genetic Laboratories, LLC.
Recruitment status was: Not yet recruiting
First Posted : June 12, 2012
Last Update Posted : June 12, 2012
|Condition or disease|
|Fragile X Syndrome|
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.
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay|
|Study Start Date :||July 2012|
|Estimated Primary Completion Date :||December 2012|
|Estimated Study Completion Date :||December 2012|
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01616589
|Contact: Naomi Nakata, MA||310 email@example.com|
|United States, Massachusetts|
|Westborough, Massachusetts, United States, 01581|
|Contact: Naomi Nakata, MA 310-482-5561 firstname.lastname@example.org|
|Principal Investigator:||Thomas Scholl, PhD||Esoterix Genetic Laboratories, LLC|