Multi-disease Carrier Screening Test Validation

This study has been withdrawn prior to enrollment.
(Samples were not needed for test development, therefore subjects were not recruited or enrolled)
Information provided by (Responsible Party):
Natera, Inc. Identifier:
First received: August 9, 2012
Last updated: July 12, 2013
Last verified: July 2013
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.

Condition Intervention
Spinal Muscular Atrophy (SMA)
Carrier Screening
Genetic Testing
Procedure: Blood draw

Study Type: Observational
Official Title: Collection of Blood Samples for Development of Multi-disease Carrier Testing

Resource links provided by NLM:

Further study details as provided by Natera, Inc.:

Biospecimen Retention:   Samples With DNA
De-identified samples may be retained for future research.

Enrollment: 0
Study Start Date: August 2012
Primary Completion Date: June 2013 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01663584

United States, California
Natera, Inc
San Carlos, California, United States, 94070
Sponsors and Collaborators
Natera, Inc.
  More Information

Responsible Party: Natera, Inc. Identifier: NCT01663584     History of Changes
Other Study ID Numbers: Natera014 
Study First Received: August 9, 2012
Last Updated: July 12, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Natera, Inc.:
Spinal Muscular Atrophy (SMA)
Carrier Screening
Genetic Testing

Additional relevant MeSH terms:
Muscular Atrophy
Muscular Atrophy, Spinal
Central Nervous System Diseases
Motor Neuron Disease
Nervous System Diseases
Neurodegenerative Diseases
Neurologic Manifestations
Neuromuscular Diseases
Neuromuscular Manifestations
Pathological Conditions, Anatomical
Signs and Symptoms
Spinal Cord Diseases processed this record on May 26, 2016