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Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

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ClinicalTrials.gov Identifier: NCT04859179
Recruitment Status : Recruiting
First Posted : April 26, 2021
Last Update Posted : April 26, 2021
Sponsor:
Information provided by (Responsible Party):
Chayada Tangshewinsirikul, Mahidol University

Study Description
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Brief 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.

Condition or disease
Spinal Muscular Atrophy

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
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration: 2 Months
Official Title: Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
Actual Study Start Date : March 10, 2021
Estimated Primary Completion Date : March 2022
Estimated Study Completion Date : March 2022

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. 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

  2. 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

  3. 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

  4. 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.


Biospecimen Retention:   Samples With DNA
blood, plasma and DNA

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
All pregnant women who came to antenatal care clinic at Ramathibodi Hospital, Mahidol University
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Refuse to participate the research trial
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04859179


Contacts
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Contact: Chayada Tangshewinsirikul 0898905444 chayada.tan@mahidol.ac.th
Contact: Takol Chareonsirisuthigul 021677066 takol.cha@mahidol.ac.th

Locations
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Thailand
Faculty of Medicine, Ramathibodi Hospital, Mahidol University Recruiting
Ratchathewi, Bangkok, Thailand, 10400
Sponsors and Collaborators
Mahidol University
Investigators
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Principal Investigator: Chayada Tangshewinsirikul Ramathibodi Hospital, Mahidol University
More Information
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Responsible Party: Chayada Tangshewinsirikul, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Mahidol University
ClinicalTrials.gov Identifier: NCT04859179    
Other Study ID Numbers: COA. MURA2020/1420
First Posted: April 26, 2021    Key Record Dates
Last Update Posted: April 26, 2021
Last Verified: April 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Chayada Tangshewinsirikul, Mahidol University:
spinal muscular atrophy
prenatal screening
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
 Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases