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This study has been withdrawn prior to enrollment.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):
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.
Spinal Muscular Atrophy (SMA)
Procedure: Blood draw
||Collection of Blood Samples for Development of Multi-disease Carrier Testing
Biospecimen Retention: Samples With DNA
De-identified samples may be retained for future research.
| Study Start Date:
| 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:
|Accepts Healthy Volunteers:
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.
- 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
- 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.
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 ClinicalTrials.gov identifier: NCT01663584
|San Carlos, California, United States, 94070 |
No publications provided
History of Changes
|Other Study ID Numbers:
|Study First Received:
||August 9, 2012
||July 12, 2013
||United States: Institutional Review Board
Keywords provided by Natera, Inc.:
Spinal Muscular Atrophy (SMA)
Additional relevant MeSH terms:
ClinicalTrials.gov processed this record on September 18, 2014
Muscular Atrophy, Spinal
Pathological Conditions, Anatomical
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease