Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Newborn Screening for Spinal Muscular Atrophy

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital
ClinicalTrials.gov Identifier:
NCT02123186
First received: April 21, 2014
Last updated: April 23, 2014
Last verified: April 2014
  Purpose

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


Condition Intervention
Spinal Muscular Atrophy
Other: newborn screening test for SMA

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Newborn Screening for Spinal Muscular Atrophy

Resource links provided by NLM:


Further study details as provided by National Taiwan University Hospital:

Primary Outcome Measures:
  • numbers of newborn with spinal muscular atrophy [ Time Frame: 18 months ] [ Designated as safety issue: No ]

Estimated Enrollment: 60000
Study Start Date: October 2013
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
newborns testing for SMA Other: newborn screening test for SMA
Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.

Detailed 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.

  Eligibility

Ages Eligible for Study:   up to 3 Months
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

newborns whose parents agree to be tested

Criteria

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02123186

Locations
Taiwan
National Taiwan University Hospital
Taipei, Taiwan,, Taiwan, 100
Sponsors and Collaborators
National Taiwan University Hospital
Investigators
Principal Investigator: Yin-Hsiu Chien, M.D., PhD. National Taiwan University Hospital
  More Information

No publications provided

Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT02123186     History of Changes
Other Study ID Numbers: 201308058RIN
Study First Received: April 21, 2014
Last Updated: April 23, 2014
Health Authority: Taiwan: Department of Health

Keywords provided by National Taiwan University Hospital:
Newborn Screening , spinal muscular atrophy

Additional relevant MeSH terms:
Atrophy
Muscular Atrophy
Muscular Atrophy, Spinal
Central Nervous System Diseases
Motor Neuron Disease
Nervous System Diseases
Neurodegenerative Diseases
Neurologic Manifestations
Neuromuscular Diseases
Neuromuscular Manifestations
Pathological Conditions, Anatomical
Signs and Symptoms
Spinal Cord Diseases

ClinicalTrials.gov processed this record on November 25, 2014