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
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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 |
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 |
Study Start Date : | July 2012 |
Estimated Primary Completion Date : | December 2012 |
Estimated Study Completion Date : | December 2012 |

Group/Cohort |
---|
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
|

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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.

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 | 310 482-5561 | naomi.nakata@integratedgenetics.com |
United States, Massachusetts | |
Integrated Genetics | |
Westborough, Massachusetts, United States, 01581 | |
Contact: Naomi Nakata, MA 310-482-5561 naomi.nakata@integratedgenetics.com |
Principal Investigator: | Thomas Scholl, PhD | Esoterix Genetic Laboratories, LLC |
Responsible Party: | Esoterix Genetic Laboratories, LLC |
ClinicalTrials.gov Identifier: | NCT01616589 |
Other Study ID Numbers: |
GGFX0001 |
First Posted: | June 12, 2012 Key Record Dates |
Last Update Posted: | June 12, 2012 |
Last Verified: | June 2012 |
Fragile X syndrome Fragile X full mutation Fragile X premutation Fragile X intermediate CGG repeat length |
Fragile X Syndrome Mental Retardation, X-Linked Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases |
Sex Chromosome Disorders Chromosome Disorders Congenital Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System |