Newborn Screening for Spinal Muscular Atrophy

Spinal Muscular Atrophy Clinical Trial

Official title:

Newborn Screening for Spinal Muscular Atrophy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02123186
• Other study ID #: 201308058RIND
• Status: Completed
• Phase: N/A
• First received: April 21, 2014
• Last updated: October 31, 2016
• Start date: October 2013
• Est. completion date: October 2016

Study information

• Verified date: April 2016
• Source: National Taiwan University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: Taiwan: Ministry of Health and Welfare
• Study type: Observational

Clinical Trial Summary

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

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 120267
• Est. completion date: October 2016
• Est. primary completion date: October 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A to 3 Months

Eligibility

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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

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

Intervention

Other:
• newborn screening test for SMA
Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.

Locations

Country	Name	City	State
Taiwan	National Taiwan University Hospital	Taipei	Taiwan,

Sponsors (1)

Lead Sponsor	Collaborator
National Taiwan University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	numbers of newborn with spinal muscular atrophy		18 months	No