Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.

Verified June 2012 by Esoterix Genetic Laboratories, LLC.
Recruitment status was: Not yet recruiting

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:

Genetics Home Reference related topics: fragile X syndrome

MedlinePlus related topics: Fragile X Syndrome

Genetic and Rare Diseases Information Center resources: Fragile X Syndrome X-linked Mental Retardation and Macro-orchidism

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


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

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, see Learn About Clinical Studies.

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


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

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

ClinicalTrials.gov processed this record on August 22, 2017

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