Multi-disease Carrier Screening Test Validation

Withdrawn before enrolling

Conditions studied: Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing

In brief

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.

Key facts

Study ID

NCT01663584

Run by

Natera, Inc.

People needed

0

Starts

2012-08-01

Last updated by the study team

2013-07-16

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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.

Where it is running

• Natera, Inc — San Carlos, California, United States

Full record on ClinicalTrials.gov

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