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UK SMA Patient Registry

NCT04292574 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 800

Last updated 2024-07-23

No results posted yet for this study

Summary

Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults. It is an autosomal recessive disorder and is therefore caused by inheritance of a mutated gene from each parent. All forms of SMA have an estimated combined incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1/40 to 1/60.

The patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland. Entry is via self-registration over a secure internet connection (https://www.sma-registry.org.uk/). Online, patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate. Following online consent, subjects will be entered into the registry. This is an on-going database and all participants are invited to update their information on a biannual basis.

Conditions

Interventions

OTHER

Patient Registry

Participants who have volunteered to participate will complete various questionnaires relating to their conditions.

Sponsors & Collaborators

  • Biogen

    collaborator INDUSTRY

  • Roche Pharma AG

    collaborator INDUSTRY

  • Adult SMA REACH

    collaborator UNKNOWN

  • SMA REACH UK

    collaborator UNKNOWN

  • Newcastle University

    lead OTHER

Principal Investigators

  • Chiara Marini-Bettolo, MD, PhD · Newcastle University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2008-07-13
Primary Completion
2025-05-31
Completion
2025-05-31

Countries

  • United Kingdom

Study Locations

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Entities

Diseases
Companies

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 NCT04292574 on ClinicalTrials.gov