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Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

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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
Sponsor:
Information provided by (Responsible Party):

Study Description
Brief 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.

Condition or disease
Fragile X Syndrome

Detailed 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.


Study Design

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

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

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


Outcome Measures

Biospecimen Retention:   Samples With DNA
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.

Eligibility Criteria

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Fragile X full mutations (affecteds), fragile X premutations (carriers), and fragile X intermediates who previously had fragile X testing through Esoterix Genetic Laboratories. Subject population will be in the US.
Criteria

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.
Contacts and Locations

Information from the National Library of Medicine

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


Contacts
Contact: Naomi Nakata, MA 310 482-5561 naomi.nakata@integratedgenetics.com

Locations
United States, Massachusetts
Integrated Genetics Not yet recruiting
Westborough, Massachusetts, United States, 01581
Contact: Naomi Nakata, MA    310-482-5561    naomi.nakata@integratedgenetics.com   
Sponsors and Collaborators
Esoterix Genetic Laboratories, LLC
Investigators
Principal Investigator: Thomas Scholl, PhD Esoterix Genetic Laboratories, LLC
More Information

Responsible Party: Esoterix Genetic Laboratories, LLC
ClinicalTrials.gov Identifier: NCT01616589     History of Changes
Other Study ID Numbers: GGFX0001
First Posted: June 12, 2012    Key Record Dates
Last Update Posted: June 12, 2012
Last Verified: June 2012

Keywords provided by Esoterix Genetic Laboratories, LLC:
Fragile X syndrome
Fragile X full mutation
Fragile X premutation
Fragile X intermediate
CGG repeat length

Additional relevant MeSH terms:
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