Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
Launched by MAHIDOL UNIVERSITY · Apr 21, 2021
Trial Information
Current as of July 21, 2025
Unknown status
Keywords
ClinConnect Summary
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 (ACO...
Gender
FEMALE
Eligibility criteria
- Inclusion Criteria:
- • Maternal age \> 18 years
- • Singleton pregnancy
- • Gestational age ≤ 14 weeks
- Exclusion Criteria:
- • Refuse to participate the research trial
About Mahidol University
Mahidol University, a premier institution in Thailand, is dedicated to advancing healthcare through innovative research and education. As a leading sponsor of clinical trials, the university leverages its extensive expertise in medical and health sciences to facilitate rigorous scientific investigations aimed at improving patient care and public health outcomes. With a commitment to ethical practices and collaboration, Mahidol University fosters multidisciplinary approaches, engaging a diverse array of researchers and healthcare professionals to drive meaningful advancements in clinical research.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Ratchathewi, Bangkok, Thailand
Patients applied
Trial Officials
Chayada Tangshewinsirikul
Principal Investigator
Ramathibodi Hospital, Mahidol University
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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