Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

Spinal Muscular Atrophy Clinical Trial

Official title:

Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04859179
• Other study ID #: COA. MURA2020/1420
• Status: Recruiting
• Start date: March 10, 2021
• Est. completion date: March 2022

Study information

• Verified date: April 2021
• Source: Mahidol University
• Contact: Chayada Tangshewinsirikul
• Phone: 0898905444
• Email: chayada.tan[@]mahidol.ac.th
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: March 2022
• Est. primary completion date: March 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• Refuse to participate the research trial

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Locations

Country	Name	City	State
Thailand	Faculty of Medicine, Ramathibodi Hospital, Mahidol University	Ratchathewi	Bangkok

Sponsors (1)

Lead Sponsor	Collaborator
Mahidol University

Country where clinical trial is conducted

Thailand, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	12 months
Secondary	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	12 months
Secondary	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	12 months
Secondary	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	12 months
Secondary	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.	12 months