Neonatal Spinal Muscular Atrophy (SMA) Screening

NCT03217578 | Recruiting

• 1 other identifier: SMA-NBS001
• Study Type: observational
• Target: 250,000
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Spinal Muscular Atrophy

Keywords

Spinal Muscular Atrophy; Newborn Screening

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Number of neonates with confirmed SMA

  3 years

Interventions

SMA Newborn Screening OTHER

Eligibility Criteria

• Age: 0 Weeks - 2 Weeks
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Neonates whose parents agree to be tested.

You may qualify if:

• Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
• Parents or legal guardian agree to perform SMA newborn screening.

You may not qualify if:

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

Sponsors & Collaborators

• Kaohsiung Medical University Chung-Ho Memorial Hospital: lead
• The Chinese Foundation of Health: collaborator
• Taipei Institute of Pathology: collaborator

Study Sites (1)

Kaohsiung Medical University Chung-Ho Memorial Hospital

Kaohsiung City, 807, Taiwan

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Central Study Contacts

Yun-Hui Chou

CONTACT

+886972977320; wendychoucrn@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 12, 2017
• First Posted: July 14, 2017
• Study Start: September 1, 2017
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: February 16, 2024

Record last verified: 2024-01

Data Sharing

• IPD Sharing: Will not share

Locations

TW (1)