Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

NCT01616589 | Unknown

• 1 other identifier: GGFX0001
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Fragile X Syndrome

Keywords

Fragile X syndrome; Fragile X full mutation; Fragile X premutation; Fragile X intermediate; CGG repeat length

Study Arms (3)

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Esoterix Genetic Laboratories, LLC: lead

Study Sites (1)

Integrated Genetics

Westborough, Massachusetts, 01581, United States

Location

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.

MeSH Terms

Conditions

Fragile X Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System

Study Officials

• Thomas Scholl, PhD

  Esoterix Genetic Laboratories, LLC

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Naomi Nakata, MA

CONTACT

310 482-5561; naomi.nakata@integratedgenetics.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 7, 2012
• First Posted: June 12, 2012
• Study Start: July 1, 2012
• Primary Completion: December 1, 2012
• Study Completion: December 1, 2012
• Last Updated: June 12, 2012

Record last verified: 2012-06

Locations

US (1)