Multi-disease Carrier Screening Test Validation
Primary Purpose
Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
Status
Withdrawn
Phase
Locations
United States
Study Type
Observational
Intervention
Blood draw
Sponsored by
About this trial
This is an observational trial for Spinal Muscular Atrophy (SMA) focused on measuring Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
Eligibility Criteria
Inclusion Criteria:
- 18 years of age or older
- Individuals who are carriers of an SMN1 deletion consistent with Spinal Muscular Atrophy carrier status and are able to provide documentation of carrier status determined from prior testing
- Able to provide a blood sample
- Pregnant women may be include in the study
Exclusion Criteria:
- Minors under the age of 18 years
- Individuals who are not carriers of a Spinal Muscular Atrophy mutation
- Individuals who are unable to provide documentation of Spinal Muscular Atrophy carrier status.
Sites / Locations
- Natera, Inc
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT01663584
Brief Title
Multi-disease Carrier Screening Test Validation
Official Title
Collection of Blood Samples for Development of Multi-disease Carrier Testing
Study Type
Observational
2. Study Status
Record Verification Date
July 2013
Overall Recruitment Status
Withdrawn
Why Stopped
Samples were not needed for test development, therefore subjects were not recruited or enrolled
Study Start Date
August 2012 (undefined)
Primary Completion Date
June 2013 (Actual)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Natera, Inc.
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
Keywords
Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
7. Study Design
Enrollment
0 (Actual)
Biospecimen Retention
Samples With DNA
Biospecimen Description
De-identified samples may be retained for future research.
8. Arms, Groups, and Interventions
Intervention Type
Procedure
Intervention Name(s)
Blood draw
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
18 years of age or older
Individuals who are carriers of an SMN1 deletion consistent with Spinal Muscular Atrophy carrier status and are able to provide documentation of carrier status determined from prior testing
Able to provide a blood sample
Pregnant women may be include in the study
Exclusion Criteria:
Minors under the age of 18 years
Individuals who are not carriers of a Spinal Muscular Atrophy mutation
Individuals who are unable to provide documentation of Spinal Muscular Atrophy carrier status.
Study Population Description
Study participation will be open to individuals who have tested positive for carrier status of a specific genetic disease or mutation and are able to provide documentation of their test results.
Sampling Method
Non-Probability Sample
Facility Information:
Facility Name
Natera, Inc
City
San Carlos
State/Province
California
ZIP/Postal Code
94070
Country
United States
12. IPD Sharing Statement
Learn more about this trial
Multi-disease Carrier Screening Test Validation
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