Spinal Muscular AtrophyNCT04859179
Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
An observational study of Spinal Muscular Atrophy, run by Mahidol University at 1 site in Thailand.
Trial summary
Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG). However, in Thailand, there are no standard protocol for SMA prenatal carrier screening. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 200 participants
- Where
- 1 siteThailand
- Study dates
- 10 Mar 2021to Mar 2022
- How long will I take part?
- 2 Months
- 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
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: All pregnant women who came to antenatal care clinic at Ramathibodi Hospital, Mahidol University
Who may be able to join
- Maternal age > 18 years
- Singleton pregnancy
- Gestational age ≤ 14 weeks
Who cannot join
- Refuse to participate the research trial
Trial locations and contacts
1 site in 1 country.
Thailand1 site, 1 recruiting
- Recruiting
Faculty of Medicine, Ramathibodi Hospital, Mahidol University
Ratchathewi, Bangkok, 10400
About this study
Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG). However, in Thailand, there are no standard protocol for SMA prenatal carrier screening.
Read the detailed description
Spinal muscular atrophy (SMA) is one of the most common neuromuscular autosomal recessive disorders. The incidence is about 1:10,000 livebirths. There are 5 subgroups base on onset of symptoms and clinical severity. Type 1 is the most severe type which age of onset is 6 months old and life expectancy is less than 1-2 years. SMA carrier frequency is approximately 1/40-1/60. Molecular genetic testing to detect copies number of SMN1 gene is possible with as high as 95% detection rate. Since 2008, American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG) recommended SMA preconceptional and prenatal carrier screening in general population. In Thailand, there are no standard protocol for SMA prenatal carrier screening.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- spinal muscular atrophy, prenatal screening
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy among pregnant women seeking prenatal care
Measured: 12 months
Secondary outcomes (4)
Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy
Factors associated rate of acceptance of prenatal carrier screening for spinal muscular among pregnant women seeking prenatal care
Measured: 12 months
Copies number of SMN1 and SMN2 genes in pregnant women
Copies number of SMN1 and SMN2 genes in pregnant women among individuals who accepted carrier screening
Measured: 12 months
Carrier frequency among individuals who accepted carrier screening
Screen positive rate or rate of having 1 copy of SMN1 among individuals who accepted carrier screening
Measured: 12 months
Pregnant women's attitudes toward spinal muscular atrophy and carrier screening
After genetic counseling, pregnant women's attitudes toward spinal muscular atrophy and carrier screening will be evaluated by validated questionnaire.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Apr 2021
- Study start10 Mar 2021
- Primary completionMar 2022 (estimated)
- Study completionMar 2022 (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.
- More trials run by Mahidol UniversityThe 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
- Other
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
- Target duration
- 2 Months
Sponsor and investigators
- Lead sponsor
- Mahidol University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Chayada Tangshewinsirikul, Mahidol University
- Investigators
- Chayada Tangshewinsirikul, Principal investigator, Ramathibodi Hospital, Mahidol University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04859179
- Sponsor's protocol ID
- COA. MURA2020/1420
- Status last verified
- Apr 2021
- First submitted
- 26 Mar 2021
- Last updated
- 26 Apr 2021
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
- ClinicalTrials.gov ID
- NCT04859179
- Acronym / sponsor ID
- COA. MURA2020/1420
- Conditions
- Spinal Muscular Atrophy
- Keywords
- spinal muscular atrophy, prenatal screening
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Mahidol UniversityUniversity, hospital or other
- Study start
- 10 Mar 2021 (actual)
- Primary completion
- Mar 2022 (estimated)
- Study completion
- Mar 2022 (estimated)
- First posted
- 26 Apr 2021 (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.
Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG). However, in Thailand, there are no standard protocol for SMA prenatal carrier screening.
Detailed description
Spinal muscular atrophy (SMA) is one of the most common neuromuscular autosomal recessive disorders. The incidence is about 1:10,000 livebirths. There are 5 subgroups base on onset of symptoms and clinical severity. Type 1 is the most severe type which age of onset is 6 months old and life expectancy is less than 1-2 years. SMA carrier frequency is approximately 1/40-1/60. Molecular genetic testing to detect copies number of SMN1 gene is possible with as high as 95% detection rate. Since 2008, American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG) recommended SMA preconceptional and prenatal carrier screening in general population. In Thailand, there are no standard protocol for SMA prenatal carrier screening.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 2 Months
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- All pregnant women who came to antenatal care clinic at Ramathibodi Hospital, Mahidol University
Key inclusion criteria (3 listed)
- Maternal age > 18 years
- Singleton pregnancy
- Gestational age ≤ 14 weeks
Key exclusion criteria (1 listed)
- Refuse to participate the research trial
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy
Time frame: 12 months
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy among pregnant women seeking prenatal care
4 secondary outcomes
Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy
Time frame: 12 months
Copies number of SMN1 and SMN2 genes in pregnant women
Time frame: 12 months
Carrier frequency among individuals who accepted carrier screening
Time frame: 12 months
Pregnant women's attitudes toward spinal muscular atrophy and carrier screening
Time frame: 12 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Apr 2021.
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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.
Chayada Tangshewinsirikul principal investigator
Ramathibodi Hospital, Mahidol University
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 Mahidol University at 1 site in Thailand.
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 3 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: status not confirmed, as of the sponsor's last update on 26 Apr 2021. 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 Thailand. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Chayada Tangshewinsirikul (0898905444, chayada.tan@mahidol.ac.th), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy (time frame: 12 months). 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 26 Apr 2021.