Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay

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.

Study Overview

• Status: Unknown
• Conditions: 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 Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Westborough, Massachusetts, United States, 01581
      • Integrated Genetics

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

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

Collaborators and Investigators

• Sponsor: Esoterix Genetic Laboratories, LLC
• Investigators: Principal Investigator: Thomas Scholl, PhD, Esoterix Genetic Laboratories, LLC

Study record dates

Study Major Dates

• Study Start: July 1, 2012
• Primary Completion (ANTICIPATED): December 1, 2012
• Study Completion (ANTICIPATED): December 1, 2012

Study Registration Dates

• First Submitted: June 7, 2012
• First Submitted That Met QC Criteria: June 7, 2012
• First Posted (ESTIMATE): June 12, 2012

Study Record Updates

• Last Update Posted (ESTIMATE): June 12, 2012
• Last Update Submitted That Met QC Criteria: June 7, 2012
• Last Verified: June 1, 2012

More Information

Terms related to this study

• Keywords: Fragile X syndrome; Fragile X full mutation; Fragile X premutation; Fragile X intermediate; CGG repeat length
• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Chromosome Disorders; Sex Chromosome Disorders; Fragile X Syndrome
• Other Study ID Numbers: GGFX0001