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Clinical Trials/NCT01663584
NCT01663584
Withdrawn
Not Applicable

Collection of Blood Samples for Development of Multi-disease Carrier Testing

Natera, Inc.1 site in 1 countryAugust 2012

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
Spinal Muscular Atrophy (SMA)
Sponsor
Natera, Inc.
Locations
1
Status
Withdrawn
Last Updated
12 years ago

Overview

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.

Registry
clinicaltrials.gov
Start Date
August 2012
End Date
June 2013
Last Updated
12 years ago
Study Type
Observational
Sex
All

Investigators

Responsible Party
Sponsor

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.

Outcomes

Primary Outcomes

Not specified

Study Sites (1)

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