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Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

This study is not yet open for participant recruitment.
Verified June 2012 by Esoterix Genetic Laboratories, LLC
Sponsor:
Information provided by (Responsible Party):
Esoterix Genetic Laboratories, LLC
ClinicalTrials.gov Identifier:
NCT01616589
First received: June 7, 2012
Last updated: NA
Last verified: June 2012
History: No changes posted
  Purpose

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
Fragile X Syndrome

Study Type: Observational
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

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Esoterix Genetic Laboratories, LLC:

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.


Estimated Enrollment: 100
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)
Groups/Cohorts
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

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.

  Eligibility

Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided

Responsible Party: Esoterix Genetic Laboratories, LLC
ClinicalTrials.gov Identifier: NCT01616589     History of Changes
Other Study ID Numbers: GGFX0001
Study First Received: June 7, 2012
Last Updated: June 7, 2012
Health Authority: United States: Institutional Review Board

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
Mental Retardation
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

ClinicalTrials.gov processed this record on June 17, 2013