Neonatal Spinal Muscular Atrophy (SMA) Screening

Spinal Muscular Atrophy Clinical Trial

— SMA  

Official title:

Study on the Neonatal Screening of Spinal Muscular Atrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03217578
• Other study ID #: SMA-NBS001
• Status: Recruiting
• Start date: September 1, 2017
• Est. completion date: December 31, 2030

Study information

• Verified date: January 2024
• Source: Kaohsiung Medical University Chung-Ho Memorial Hospital
• Contact: Yun-Hui Chou
• Phone: +886972977320
• Email: wendychoucrn[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 250000
• Est. completion date: December 31, 2030
• Est. primary completion date: December 31, 2030
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 0 Weeks to 2 Weeks

Eligibility

Inclusion Criteria:

1. Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.

2. Parents or legal guardian agree to perform SMA newborn screening.

Exclusion Criteria:

Parents or legal guardian do not agree to perform SMA newborn screening.

Related Conditions & MeSH terms

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

Intervention

Other:
• SMA Newborn Screening

Locations

Country	Name	City	State
Taiwan	Kaohsiung Medical University Chung-Ho Memorial Hospital	Kaohsiung

Sponsors (3)

Lead Sponsor	Collaborator
Kaohsiung Medical University Chung-Ho Memorial Hospital	Taipei Institute of Pathology, The Chinese Foundation of Health

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of neonates with confirmed the deletion of 2 copies of SMN1 gene	Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test	3 years
Secondary	Number of neonates with confirmed SMA	Neonates with confirmed the deletion of 2 copies of SMN1 gene by MLPA test will be followed till SMA symptoms appear.	3 years