Multi-disease Carrier Screening Test Validation

NCT01663584 | Withdrawn

• 1 other identifier: Natera014
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Spinal Muscular Atrophy (SMA); Carrier Screening; Genetic Testing

Keywords

Spinal Muscular Atrophy (SMA); Carrier Screening; Genetic Testing

Interventions

Blood draw PROCEDURE

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Natera, Inc.: lead

Study Sites (1)

Natera, Inc

San Carlos, California, 94070, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

De-identified samples may be retained for future research.

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: observational
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 9, 2012
• First Posted: August 13, 2012
• Study Start: August 1, 2012
• Primary Completion: June 1, 2013
• Last Updated: July 16, 2013

Record last verified: 2013-07

Locations

US (1)