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Multi-disease Carrier Screening Test Validation

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ClinicalTrials.gov Identifier: NCT01663584
Recruitment Status : Withdrawn (Samples were not needed for test development, therefore subjects were not recruited or enrolled)
First Posted : August 13, 2012
Last Update Posted : July 16, 2013
Sponsor:
Information provided by (Responsible Party):
Natera, Inc.

Tracking Information
First Submitted Date August 9, 2012
First Posted Date August 13, 2012
Last Update Posted Date July 16, 2013
Study Start Date August 2012
Actual Primary Completion Date June 2013   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT01663584 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Multi-disease Carrier Screening Test Validation
Official Title Collection of Blood Samples for Development of Multi-disease Carrier Testing
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.
Detailed Description Not Provided
Study Type Observational
Study Design Not Provided
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
De-identified samples may be retained for future research.
Sampling Method Non-Probability Sample
Study Population 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.
Condition
  • Spinal Muscular Atrophy (SMA)
  • Carrier Screening
  • Genetic Testing
Intervention Procedure: Blood draw
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Withdrawn
Actual Enrollment
 (submitted: July 12, 2013)
0
Original Estimated Enrollment
 (submitted: August 9, 2012)
200
Study Completion Date Not Provided
Actual Primary Completion Date June 2013   (Final data collection date for primary outcome measure)
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.
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01663584
Other Study ID Numbers Natera014
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Natera, Inc.
Study Sponsor Natera, Inc.
Collaborators Not Provided
Investigators Not Provided
PRS Account Natera, Inc.
Verification Date July 2013