Multi-disease Carrier Screening Test Validation

Genetic Testing Clinical Trial

Official title:

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

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT01663584
• Other study ID #: Natera014
• Status: Withdrawn
• Phase: N/A
• First received: August 9, 2012
• Last updated: July 12, 2013
• Start date: August 2012

Study information

• Verified date: July 2013
• Source: Natera, Inc.
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. primary completion date: June 2013
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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 Design

N/A

Related Conditions & MeSH terms

• Carrier Screening
• Genetic Testing
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy (SMA)

Intervention

Procedure:
• Blood draw

Locations

Country	Name	City	State
United States	Natera, Inc	San Carlos	California

Sponsors (1)

Lead Sponsor	Collaborator
Natera, Inc.

Country where clinical trial is conducted

United States,