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Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

The recruitment status of this study is unknown because the information has not been verified recently.
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

June 7, 2012
June 7, 2012
July 2012
December 2012   (final data collection date for primary outcome measure)
Not Provided
Not Provided
No Changes Posted
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Not Provided
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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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

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.

Non-Probability Sample

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.

Fragile X Syndrome
Not Provided
  • 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
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Not yet recruiting
100
December 2012
December 2012   (final data collection date for primary outcome measure)

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.
Both
Not Provided
No
Contact: Naomi Nakata, MA 310 482-5561 naomi.nakata@integratedgenetics.com
United States
 
NCT01616589
GGFX0001
No
Esoterix Genetic Laboratories, LLC
Esoterix Genetic Laboratories, LLC
Not Provided
Principal Investigator: Thomas Scholl, PhD Esoterix Genetic Laboratories, LLC
Esoterix Genetic Laboratories, LLC
June 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP