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
Recruitment status was: Not yet recruiting
Sponsor:
Esoterix Genetic Laboratories, LLC
ClinicalTrials.gov Identifier:
NCT01616589
First Posted: June 12, 2012
Last Update Posted: June 12, 2012
Information provided by (Responsible Party):
Esoterix Genetic Laboratories, LLC
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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
Detailed 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.
| 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
Information from the National Library of Medicine
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, Learn About Clinical Studies.
| 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
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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 |
| First Submitted: | June 7, 2012 |
| First Posted: | June 12, 2012 |
| Last Update Posted: | June 12, 2012 |
| Last Verified: | June 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 |