Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

Last updated: April 21, 2021
Sponsor: Mahidol University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Muscular Dystrophy

Myasthenia Gravis (Chronic Weakness)

Spinal Muscular Atrophy

Treatment

N/A

Clinical Study ID

NCT04859179
COA. MURA2020/1420
  • Ages > 18
  • Female
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

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

Exclusion

Exclusion Criteria:

  • Refuse to participate the research trial

Study Design

Total Participants: 200
Study Start date:
March 10, 2021
Estimated Completion Date:
March 31, 2022

Study 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.

Connect with a study center

  • Faculty of Medicine, Ramathibodi Hospital, Mahidol University

    Ratchathewi, Bangkok 10400
    Thailand

    Active - Recruiting

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