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Newborn Screening for Spinal Muscular Atrophy (SMA) - a Proof of Principle Study Using Anonymised Blood Spots.

NCT05237544 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 5065

Last updated 2022-02-14

No results posted yet for this study

Summary

Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS)to detect SMA has been implemented in public health laboratories in some countries already. In the UK dried blood spots are collected within a few days of birth on all babies and subsequent newborn screening is currently carried out for other diseases but not for SMA. The investigators would like to carry out a proof of principal testing to show that an assay for SMA can be carried out on these routinely collected dried blood spots (completely anonymised). The investigators would also run some known anonymised SMA positive dried blood spots. The aim is to demonstrate that a simple robust test can be used in a routine diagnostic laboratory to accurately screen for SMA. The investigators will not have access to identifiable data or samples for this project.

Conditions

Sponsors & Collaborators

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    lead OTHER

Eligibility

Min Age
1 Day
Max Age
2 Weeks
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-11-11
Primary Completion
2021-03-30
Completion
2021-03-30

Countries

  • United Kingdom

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05237544 on ClinicalTrials.gov