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Neonatal Spinal Muscular Atrophy (SMA) Screening (SMA)

This study is currently recruiting participants.
Verified July 2017 by Kaohsiung Medical University Chung-Ho Memorial Hospital
Sponsor:
ClinicalTrials.gov Identifier:
NCT03217578
First Posted: July 14, 2017
Last Update Posted: November 10, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborators:
The Chinese Foundation of Health
Taipei Institute of Pathology
Information provided by (Responsible Party):
Kaohsiung Medical University Chung-Ho Memorial Hospital
  Purpose
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.

Condition Intervention
Spinal Muscular Atrophy Other: SMA Newborn Screening

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Study on the Neonatal Screening of Spinal Muscular Atrophy

Resource links provided by NLM:


Further study details as provided by Kaohsiung Medical University Chung-Ho Memorial Hospital:

Primary Outcome Measures:
  • Number of neonates with confirmed the deletion of 2 copies of SMN1 gene [ Time Frame: 3 years ]
    Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test


Secondary Outcome Measures:
  • Number of neonates with confirmed SMA [ Time Frame: 3 years ]
    Neonates with confirmed the deletion of 2 copies of SMN1 gene by MLPA test will be followed till SMA symptoms appear.


Estimated Enrollment: 250000
Actual Study Start Date: September 1, 2017
Estimated Study Completion Date: December 31, 2019
Estimated Primary Completion Date: December 31, 2019 (Final data collection date for primary outcome measure)
  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 2 Weeks   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Neonates whose parents agree to be tested.
Criteria

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.

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03217578


Contacts
Contact: Yun-Hui Chou +886972977320 wendychoucrn@gmail.com

Locations
Taiwan
Kaohsiung Medical University Chung-Ho Memorial Hospital Recruiting
Kaohsiung, Taiwan, 807
Contact: Yun-Hui Chou    +886972977320    wendychoucrn@gmail.com   
Principal Investigator: Yuh-Jyh Jong, MD         
Sponsors and Collaborators
Kaohsiung Medical University Chung-Ho Memorial Hospital
The Chinese Foundation of Health
Taipei Institute of Pathology
  More Information

Responsible Party: Kaohsiung Medical University Chung-Ho Memorial Hospital
ClinicalTrials.gov Identifier: NCT03217578     History of Changes
Other Study ID Numbers: SMA-NBS001
First Submitted: July 12, 2017
First Posted: July 14, 2017
Last Update Posted: November 10, 2017
Last Verified: July 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: There is not a plan to make IPD available

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Kaohsiung Medical University Chung-Ho Memorial Hospital:
Spinal Muscular Atrophy
Newborn Screening

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