Fragile X SyndromeNCT01616589
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
An observational study of Fragile X Syndrome, run by Esoterix Genetic Laboratories, LLC at 1 site in United States.
Trial 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 more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fragile X Syndrome
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2012to Dec 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Integrated Genetics
Westborough, Massachusetts, 01581
Naomi Nakata, MA, 310-482-5561, naomi.nakata@integratedgenetics.com
About this study
Official title: 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.
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.
- Conditions
- Fragile X Syndrome
- Keywords
- Fragile X syndrome, Fragile X full mutation, Fragile X premutation, Fragile X intermediate, CGG repeat length
- Medical subject headings
- Fragile X Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2012 (estimated)
- Study startJul 2012
- Primary completionDec 2012 (estimated)
- Study completionDec 2012 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fragile X SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Esoterix Genetic Laboratories, LLC
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Thomas Scholl, PhD, Principal investigator, Esoterix Genetic Laboratories, LLC
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01616589
- Sponsor's protocol ID
- GGFX0001
- Status last verified
- Jun 2012
- First submitted
- 7 Jun 2012
- Last updated
- 12 Jun 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Jun 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay
- ClinicalTrials.gov ID
- NCT01616589
- Acronym / sponsor ID
- GGFX0001
- Conditions
- Fragile X Syndrome
- Keywords
- Fragile X syndrome, Fragile X full mutation, Fragile X premutation, Fragile X intermediate, CGG repeat length
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Esoterix Genetic Laboratories, LLCIndustry (pharma, biotech, devices)
- Study start
- Jul 2012
- Primary completion
- Dec 2012 (estimated)
- Study completion
- Dec 2012 (estimated)
- First posted
- 12 Jun 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jun 2012.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Thomas Scholl, PhD principal investigator
Esoterix Genetic Laboratories, LLC
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fragile X Syndrome, run by Esoterix Genetic Laboratories, LLC at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 Jun 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Naomi Nakata, MA (310 482-5561, naomi.nakata@integratedgenetics.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jun 2012.