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Multi-disease Carrier Screening Test Validation

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. 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Recruitment Status : Withdrawn (Samples were not needed for test development, therefore subjects were not recruited or enrolled)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
Information provided by (Responsible Party):
Natera, Inc.

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.

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

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Study Type : Observational
Actual Enrollment : 0 participants
Official Title: Collection of Blood Samples for Development of Multi-disease Carrier Testing
Study Start Date : August 2012
Actual Primary Completion Date : June 2013

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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01663584

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

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Responsible Party: Natera, Inc. Identifier: NCT01663584     History of Changes
Other Study ID Numbers: Natera014
First Posted: August 13, 2012    Key Record Dates
Last Update Posted: July 16, 2013
Last Verified: July 2013
Keywords provided by Natera, Inc.:
Spinal Muscular Atrophy (SMA)
Carrier Screening
Genetic Testing
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases