Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

April 21, 2021 updated by: Chayada Tangshewinsirikul, Mahidol University
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.

Study Overview

Status

Recruiting

Conditions

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 Type

Observational

Enrollment (Anticipated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Thailand
    • Bangkok
      • Ratchathewi, Bangkok, Thailand, 10400
        • Recruiting
        • Faculty of Medicine, Ramathibodi Hospital, Mahidol University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

All pregnant women who came to antenatal care clinic at Ramathibodi Hospital, Mahidol University

Description

Inclusion Criteria:

  • Maternal age > 18 years
  • Singleton pregnancy
  • Gestational age ≤ 14 weeks

Exclusion Criteria:

  • Refuse to participate the research trial

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy
Time Frame: 12 months
Factors associated rate of acceptance of prenatal carrier screening for spinal muscular among pregnant women seeking prenatal care
12 months
Copies number of SMN1 and SMN2 genes in pregnant women
Time Frame: 12 months
Copies number of SMN1 and SMN2 genes in pregnant women among individuals who accepted carrier screening
12 months
Carrier frequency among individuals who accepted carrier screening
Time Frame: 12 months
Screen positive rate or rate of having 1 copy of SMN1 among individuals who accepted carrier screening
12 months
Pregnant women's attitudes toward spinal muscular atrophy and carrier screening
Time Frame: 12 months
After genetic counseling, pregnant women's attitudes toward spinal muscular atrophy and carrier screening will be evaluated by validated questionnaire.
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mahidol University

Investigators

  • Principal Investigator: Chayada Tangshewinsirikul, Ramathibodi Hospital, Mahidol University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 10, 2021

Primary Completion (Anticipated)

March 1, 2022

Study Completion (Anticipated)

March 1, 2022

Study Registration Dates

First Submitted

March 26, 2021

First Submitted That Met QC Criteria

April 21, 2021

First Posted (Actual)

April 26, 2021

Study Record Updates

Last Update Posted (Actual)

April 26, 2021

Last Update Submitted That Met QC Criteria

April 21, 2021

Last Verified

April 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • COA. MURA2020/1420

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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