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

NCT05237544 | Completed

• 1 other identifier: 18NM20
• Study Type: observational
• Target: 5,065
• Locations: 1 country
• Sites: 1

Brief 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

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (3)

• Number of known SMA positive blood spots not detected by NBS

  Numbers of false negatives.-This is defined as the number of known SMA positive blood spots not detected by NBS (Newborn Screening).

  6 months

• Ease of use of the assay

  Ease of use of the assay in a high-throughput Screening Lab environment. This is defined as the space for equipment and assay set up. It also includes hands-on time setting up and analysing the assay. These are measurable outcomes and will be measured in either dimensions (lab floor/bench space needed) and time (hours) per run.

  6 months

• Number of failed blood spots samples

  Number of failed samples. This is defined as the number of blood spots that fail to PCR amplify with the NBS (Newborn Screening) kit.

  6 months

Secondary Outcomes (2)

• Assess if the screening assay picks up all known SMA positives

  6 months

• Assess if there any false positives with the assay

  6 months

Study Arms (2)

leftover dried blood spot material

All samples used will be leftover dried blood spot material from the Newborn Screening Lab at Great Ormond Street Hospital.

anonymous known SMA positive blood spots

The anonymous known SMA positive blood spots will be provided by an external company (Biogen),

Eligibility Criteria

• Age: 1 Day - 2 Weeks
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

All samples used will be leftover dried blood spot material from the Newborn Screening Lab at Great Ormond Street Hospital. No extra material will be collected and all blood spots will be completely anonymised. The anonymous known SMA positive blood spots will be provided by an external company (Biogen), in order to determine the accuracy of the assay in detecting SMA positives.

You may qualify if:

• newborn babies

You may not qualify if:

• non-newborn

Sponsors & Collaborators

• Great Ormond Street Hospital for Children NHS Foundation Trust: lead

Study Sites (1)

Dubowitz Neuromuscular Centre

London, WC1N 1EH, United Kingdom

Location

Related Publications (1)

• Adams SP, Gravett E, Kent N, Kricke S, Ifederu A, Scoto M, Samsuddin S, Muntoni F. Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay. Int J Neonatal Screen. 2021 Oct 26;7(4):69. doi: 10.3390/ijns7040069.

  PMID: 34842601 RESULT

Biospecimen

Retention: SAMPLES WITHOUT DNA

All samples used will be leftover dried blood spot material from the Newborn Screening Lab at Great Ormond Street Hospital. . The anonymous known SMA positive blood spots will be provided by an external company (Biogen), in order to determine the accuracy of the assay in detecting SMA positives.

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 12, 2019
• First Posted: February 14, 2022
• Study Start: November 11, 2019
• Primary Completion: March 30, 2021
• Study Completion: March 30, 2021
• Last Updated: February 14, 2022

Record last verified: 2022-02

Locations

GB (1)