Spinal Muscular AtrophyNCT02123186
Newborn Screening for Spinal Muscular Atrophy
An observational study of Spinal Muscular Atrophy, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy Read more about this study
- Who is it for?
- Ages 2 days to 3 monthsHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- newborn screening test for SMA
- How many people
- 120,267 participants
- Where
- 1 siteTaiwan
- Study dates
- Oct 2013to Oct 2016
- 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 2 days to 3 months
- All sexes
- Healthy volunteers accepted
- Child
Study population: newborns whose parents agree to be tested
Who may be able to join
- Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
- Parents or Legal Guardian sign in the informed consent form.
Who cannot join
- Parents or Legal Guardian do not agree to sign in the informed consent form.
Trial locations and contacts
1 site in 1 country.
About this study
To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy
Read the detailed description
Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.
- Conditions
- Spinal Muscular Atrophy
- Being tested
- newborn screening test for SMA
- Keywords
- Newborn Screening , spinal muscular atrophy
- 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.
newborn screening test for SMAOther
Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.
| Study group | Role | What they receive |
|---|---|---|
| newborns testing for SMA | Not described Receives: Other: newborn screening test for SMA |
What is being measured
The primary outcome is the main question the study is designed to answer.
numbers of newborn with spinal muscular atrophy
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Apr 2014 (estimated)
- Study startOct 2013
- Primary completionOct 2016
- Study completionOct 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 120,267 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Yin-Hsiu Chien, M.D., PhD., Principal investigator, National Taiwan University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02123186
- Sponsor's protocol ID
- 201308058RIND
- Status last verified
- Apr 2016
- First submitted
- 21 Apr 2014
- Last updated
- 2 Nov 2016
- Results posted
- No
- Data monitoring committee
- No
Publications
Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, Lee WT, Jong YJ, Ko TM, Hwu WL. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. J Pediatr. 2017 Nov;190:124-129.e1. doi: 10.1016/j.jpeds.2017.06.042. Epub 2017 Jul 12.
PubMed 28711173
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Newborn Screening for Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT02123186
- Acronym / sponsor ID
- 201308058RIND
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Newborn Screening , spinal muscular atrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 120,267 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- Oct 2013
- Primary completion
- Oct 2016 (actual)
- Study completion
- Oct 2016 (actual)
- First posted
- 25 Apr 2014 (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.
To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy
Detailed description
Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| newborns testing for SMA | – | Other: newborn screening test for SMA |
Who may qualify
- Ages
- 2 days to 3 months
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- newborns whose parents agree to be tested
Key inclusion criteria (2 listed)
- Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
- Parents or Legal Guardian sign in the informed consent form.
Key exclusion criteria (1 listed)
- Parents or Legal Guardian do not agree to sign in the informed consent form.
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 |
|---|---|---|
| newborn screening test for SMARoutine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene. | Other | newborns testing for SMA |
Primary outcome
numbers of newborn with spinal muscular atrophy
Time frame: 18 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Nov 2016.
- Derived from this study: PubMed 28711173Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, Lee WT, Jong YJ, Ko TM, Hwu WL. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. J Pediatr. 2017 Nov;190:124-129.e1. doi: 10.1016/j.jpeds.2017.06.042. Epub 2017 Jul 12.
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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.
Yin-Hsiu Chien, M.D., PhD. principal investigator
National Taiwan University Hospital
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, run by National Taiwan University Hospital at 1 site in Taiwan.
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 2 inclusion and 1 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: finished, as of the sponsor's last update on 2 Nov 2016. 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 Taiwan. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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.
What does the primary outcome measure?
numbers of newborn with spinal muscular atrophy (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02123186, which also lists 1 linked publication.
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 2 Nov 2016.