Newborn Screening for Spinal Muscular Atrophy

NCT ID: NCT02123186

Last Updated: 2016-11-02

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

COMPLETED

Total Enrollment

120267 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-10-31

Study Completion Date

2016-10-31

Brief Summary

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To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy

Detailed Description

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Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.

Conditions

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Spinal Muscular Atrophy

Keywords

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Newborn Screening , spinal muscular atrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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newborns testing for SMA

newborn screening test for SMA

Intervention Type OTHER

Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.

Interventions

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newborn screening test for SMA

Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
* Parents or Legal Guardian sign in the informed consent form.

Exclusion Criteria

* Parents or Legal Guardian do not agree to sign in the informed consent form.
Minimum Eligible Age

2 Days

Maximum Eligible Age

3 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Taiwan University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Yin-Hsiu Chien, M.D., PhD.

Role: PRINCIPAL_INVESTIGATOR

National Taiwan University Hospital

Locations

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National Taiwan University Hospital

Taipei, Taiwan, Taiwan

Site Status

Countries

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Taiwan

References

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Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, Lee WT, Jong YJ, Ko TM, Hwu WL. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. J Pediatr. 2017 Nov;190:124-129.e1. doi: 10.1016/j.jpeds.2017.06.042. Epub 2017 Jul 12.

Reference Type DERIVED
PMID: 28711173 (View on PubMed)

Other Identifiers

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201308058RIND

Identifier Type: -

Identifier Source: org_study_id