Multi-disease Carrier Screening Test Validation

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

WITHDRAWN

Study Classification

OBSERVATIONAL

Study Start Date

2012-08-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Spinal Muscular Atrophy (SMA) Carrier Screening Genetic Testing

Interventions

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Blood draw

Intervention Type PROCEDURE

Eligibility Criteria

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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.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No