Spinal Muscular AtrophySMANCT03217578
Neonatal Spinal Muscular Atrophy (SMA) Screening
An observational study of Spinal Muscular Atrophy, run by Kaohsiung Medical University Chung-Ho Memorial Hospital at 1 site in Taiwan.
Trial summary
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. Read more about this study
- Who is it for?
- Ages 0 to 2 weeksHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- SMA Newborn Screening
- How many people
- 250,000 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Sep 2017to 31 Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 0 to 2 weeks
- All sexes
- Healthy volunteers accepted
- Child
Study population: Neonates whose parents agree to be tested.
Who may be able to join
- Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
- Parents or legal guardian agree to perform SMA newborn screening.
Who cannot join
- Parents or legal guardian do not agree to perform SMA newborn screening.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Taiwan1 site, 1 recruiting
- Recruiting
Kaohsiung Medical University Chung-Ho Memorial Hospital
Kaohsiung City, 807
Yun-Hui Chou, +886972977320, wendychoucrn@gmail.com
Yuh-Jyh Jong, MD
About this study
Official title: Study on the Neonatal Screening of Spinal Muscular Atrophy
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.
- Conditions
- Spinal Muscular Atrophy
- Being tested
- SMA Newborn Screening
- Keywords
- Spinal Muscular Atrophy, Newborn Screening
- 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.
SMA Newborn ScreeningOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of neonates with confirmed the deletion of 2 copies of SMN1 gene
Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test
Measured: 3 years
Secondary outcomes (1)
Number of neonates with confirmed SMA
Neonates with confirmed the deletion of 2 copies of SMN1 gene by MLPA test will be followed till SMA symptoms appear.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jul 2017
- Study start1 Sep 2017
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 250,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- The Chinese Foundation of Health, Taipei Institute of Pathology
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03217578
- Sponsor's protocol ID
- SMA-NBS001
- Acronym
- SMA
- Status last verified
- Jan 2024
- First submitted
- 12 Jul 2017
- Last updated
- 16 Feb 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: There is not a plan to make IPD available
Study at a glance
From the registry record, last updated by the sponsor on 16 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study on the Neonatal Screening of Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT03217578
- Acronym / sponsor ID
- SMA / SMA-NBS001
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy, Newborn Screening
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 250,000 participants (estimated)
- Lead sponsor
- Kaohsiung Medical University Chung-Ho Memorial HospitalUniversity, hospital or other
- Collaborators
- The Chinese Foundation of Health, Taipei Institute of Pathology
- Study start
- 1 Sep 2017 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 14 Jul 2017 (actual)
- 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.
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 0 to 2 weeks
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Neonates whose parents agree to be tested.
Key inclusion criteria (2 listed)
- Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
- Parents or legal guardian agree to perform SMA newborn screening.
Key exclusion criteria (1 listed)
- Parents or legal guardian do not agree to perform SMA newborn screening.
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 |
|---|---|---|
| SMA Newborn Screening | Other | – |
Primary outcome
Number of neonates with confirmed the deletion of 2 copies of SMN1 gene
Time frame: 3 years
Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test
1 secondary outcome
Number of neonates with confirmed SMA
Time frame: 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Feb 2024.
- Individual participant dataSharing planned: No. There is not a plan to make IPD available
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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.
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 Kaohsiung Medical University Chung-Ho Memorial 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: looking for participants now, as of the sponsor's last update on 16 Feb 2024. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yun-Hui Chou (+886972977320, wendychoucrn@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of neonates with confirmed the deletion of 2 copies of SMN1 gene (time frame: 3 years). It is what the study was designed to measure, not a finding.
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 Feb 2024.