Newborn Screening for Spinal Muscular Atrophy

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

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Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

2 day–3 month

Sex eligibility

All sexes

Study type

Observational

Primary location

National Taiwan University Hospital

Taipei, Taiwan, 100

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

newborn screening test for SMA

Other

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

Primary outcomes

numbers of newborn with spinal muscular atrophy

Time frame: 18 months

Sponsors and collaborators

Lead sponsor

National Taiwan University Hospital

Other

Registry information

Important dates

Study start: 2013
Primary completion: 2016
Study completion: 2016
First posted: Apr 25, 2014
Registry last updated: Nov 2, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed