Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

NCT ID: NCT04859179

Last Updated: 2021-04-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-03-10

Study Completion Date

2022-03-31

Brief Summary

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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

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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

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Spinal Muscular Atrophy

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Maternal age \> 18 years
* Singleton pregnancy
* Gestational age ≤ 14 weeks

Exclusion Criteria

* Refuse to participate the research trial
Minimum Eligible Age

18 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Mahidol University

OTHER

Sponsor Role lead

Responsible Party

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Chayada Tangshewinsirikul

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Chayada Tangshewinsirikul

Role: PRINCIPAL_INVESTIGATOR

Ramathibodi Hospital, Mahidol University

Locations

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Faculty of Medicine, Ramathibodi Hospital, Mahidol University

Ratchathewi, Bangkok, Thailand

Site Status RECRUITING

Countries

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Thailand

Central Contacts

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Chayada Tangshewinsirikul

Role: CONTACT

0898905444

Takol Chareonsirisuthigul

Role: CONTACT

021677066

Other Identifiers

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COA. MURA2020/1420

Identifier Type: -

Identifier Source: org_study_id

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