Neonatal Spinal Muscular Atrophy (SMA) Screening (SMA)

Study on the Neonatal Screening of Spinal Muscular Atrophy

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.

Study Overview

• Status: Recruiting
• Conditions: Spinal Muscular Atrophy
• Intervention / Treatment: Other: SMA Newborn Screening

• Study Type: Observational
• Enrollment (Estimated): 250000

Contacts and Locations

• Study Contact: Name: Yun-Hui Chou; Phone Number: +886972977320; Email: wendychoucrn@gmail.com

Study Locations

• Taiwan
  • Kaohsiung, Taiwan, 807
    • Recruiting
    • Kaohsiung Medical University Chung-Ho Memorial Hospital
    • Principal Investigator: Yuh-Jyh Jong, MD
    • Contact: Yun-Hui Chou; Phone Number: +886972977320; Email: wendychoucrn@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 2 weeks (Child)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

Neonates whose parents agree to be tested.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital
• Collaborators: The Chinese Foundation of Health; Taipei Institute of Pathology

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2017
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030

Study Registration Dates

• First Submitted: July 12, 2017
• First Submitted That Met QC Criteria: July 12, 2017
• First Posted (Actual): July 14, 2017

Study Record Updates

• Last Update Posted (Actual): February 16, 2024
• Last Update Submitted That Met QC Criteria: February 14, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Keywords: Spinal Muscular Atrophy; Newborn Screening
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: SMA-NBS001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: There is not a plan to make IPD available

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No