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Status unknownNCT01616589Updated Jun 12, 2012

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

An observational study in Fragile X Syndrome, sponsored by Esoterix Genetic Laboratories, LLC. Status unknown at 1 site in United States. Per ClinicalTrials.gov, last updated 2012-06-12.

Sponsored by Esoterix Genetic Laboratories, LLC · Observational

The sponsor has not verified this record recently (last verified Jun 2012), so the status shown — last known as Not yet recruiting — may be out of date.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
100
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Fragile X Syndrome

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Keywords

  • Fragile X syndrome
  • Fragile X full mutation
  • Fragile X premutation
  • Fragile X intermediate
  • CGG repeat length
03

In context

Fragile X Syndrome

110 studies on the registry are indexed under Fragile X Syndrome; 23 are open to participants now.

This study's planned enrollment of 100 is close to the median of 100 across 17 observational studies indexed under Fragile X Syndrome.

Browse Fragile X Syndrome studies →

Lead sponsor

Esoterix Genetic Laboratories, LLC is the lead sponsor of 2 studies on the registry; none are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
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.

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

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.
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Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
100 participants (estimated)
Biospecimen retention
Samples with dna

Groups and 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

06

Study locations

1 site
07

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jun 12, 2012, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
08

Registry details

Key details

Study ID
NCT01616589
Lead sponsor
Esoterix Genetic Laboratories, LLC
Responsible party
Sponsor
First posted
Jun 12, 2012
Start date
Jul 2012
Primary completion
Dec 2012 (estimated)
Completion
Dec 2012 (estimated)
Last update
Jun 12, 2012

Study contacts

Naomi Nakata, MA
Contact
naomi.nakata@integratedgenetics.com
310 482-5561
Thomas Scholl, PhD
principal investigator · Esoterix Genetic Laboratories, LLC

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Jun 2012. You cannot join it, but the record below documents what was studied.

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Discussion

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