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Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

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ClinicalTrials.gov Identifier: NCT01616589
Recruitment Status : Unknown
Verified June 2012 by Esoterix Genetic Laboratories, LLC.
Recruitment status was:  Not yet recruiting
First Posted : June 12, 2012
Last Update Posted : June 12, 2012
Sponsor:
Information provided by (Responsible Party):
Esoterix Genetic Laboratories, LLC

Tracking Information
First Submitted Date June 7, 2012
First Posted Date June 12, 2012
Last Update Posted Date June 12, 2012
Study Start Date July 2012
Estimated Primary Completion Date December 2012   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
Official Title Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay
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.
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen 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.
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.
Condition Fragile X Syndrome
Intervention Not Provided
Study 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
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: June¬†7,¬†2012)
100
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2012
Estimated Primary Completion Date December 2012   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01616589
Other Study ID Numbers GGFX0001
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Esoterix Genetic Laboratories, LLC
Study Sponsor Esoterix Genetic Laboratories, LLC
Collaborators Not Provided
Investigators
Principal Investigator: Thomas Scholl, PhD Esoterix Genetic Laboratories, LLC
PRS Account Esoterix Genetic Laboratories, LLC
Verification Date June 2012