Neonatal Spinal Muscular Atrophy (SMA) Screening

NCT ID: NCT03217578

Last Updated: 2024-02-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

250000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-09-01

Study Completion Date

2030-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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Spinal Muscular Atrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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SMA Newborn Screening

Intervention Type OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

0 Weeks

Maximum Eligible Age

2 Weeks

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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The Chinese Foundation of Health

UNKNOWN

Sponsor Role collaborator

Taipei Institute of Pathology

OTHER_GOV

Sponsor Role collaborator

Kaohsiung Medical University Chung-Ho Memorial Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Kaohsiung Medical University Chung-Ho Memorial Hospital

Kaohsiung City, , Taiwan

Site Status RECRUITING

Countries

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Taiwan

Central Contacts

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Yun-Hui Chou

Role: CONTACT

+886972977320

Facility Contacts

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Yun-Hui Chou

Role: primary

+886972977320

Other Identifiers

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SMA-NBS001

Identifier Type: -

Identifier Source: org_study_id

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