Spinal Muscular Atrophy (SMA)NCT01663584
Multi-disease Carrier Screening Test Validation
An observational study of Spinal Muscular Atrophy (SMA) and Carrier Screening, run by Natera, Inc. at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
- What is being tested?
- Blood draw
- Type of treatment
- Surgery or procedure
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2012to Jun 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Collection of Blood Samples for Development of Multi-disease Carrier Testing
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.
- Being tested
- Blood draw
- Keywords
- Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood drawProcedure or surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Aug 2012 (estimated)
- Study startAug 2012
- Primary completionJun 2013
Why it stopped: Samples were not needed for test development, therefore subjects were not recruited or enrolled
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01663584
- Sponsor's protocol ID
- Natera014
- Status last verified
- Jul 2013
- First submitted
- 9 Aug 2012
- Last updated
- 16 Jul 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jul 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Collection of Blood Samples for Development of Multi-disease Carrier Testing
- ClinicalTrials.gov ID
- NCT01663584
- Acronym / sponsor ID
- Natera014
- Keywords
- Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Samples were not needed for test development, therefore subjects were not recruited or enrolled
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Study start
- Aug 2012
- Primary completion
- Jun 2013 (actual)
- First posted
- 13 Aug 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood draw | Procedure or surgery | – |
Primary outcome
Not reported in the source record.
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2013.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy (SMA) and Carrier Screening, run by Natera, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 16 Jul 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jul 2013.