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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Withdrawn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
Natera, Inc.
About
Eligibility
Locations
Outcomes
Full info

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

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

First Posted
August 9, 2012
Last Updated
July 12, 2013
Sponsor
Natera, Inc.
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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Withdrawn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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