UK SMA Patient Registry

NCT04292574 | Recruiting

• 1 other identifier: 22/NE/0131
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief 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

Spinal Muscular Atrophy; SMA

Keywords

Spinal Muscular Atrophy; SMA; Neuromuscular Diseases; Motor Neuron Disease; Bulbo-Spinal Atrophy, X-Linked; Kennedy Disease; Spinal Muscular Atrophy with Respiratory Distress 1; Distal Spinal Muscular Atrophy; SMA type 1; SMA type 2; SMA type 3; SMA type 4; 5q SMA

Outcome Measures

Primary Outcomes (1)

• Patient questionnaire

  Patient-reported clinical and genetic confirmation of SMA, symptoms relating to muscle weakness, motor function, medication and family history. The patient registry collects the TREAT-NMD Expanded SMA Core Dataset, which includes post-marketing surveillance data items, and patient-reported outcome measures (PROMs).

  12 months

Study Arms (1)

Participants with Spinal Muscular Atrophy

Other: Patient Registry

Interventions

Patient Registry OTHER

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

Participants with Spinal Muscular Atrophy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants with SMA will volunteer to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences throughout the UK and Ireland.

Sponsors & Collaborators

• Newcastle University: lead
• Biogen: collaborator
• Roche Pharma AG: collaborator
• Adult SMA REACH: collaborator
• SMA REACH UK: collaborator

Study Sites (1)

John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, NE1 3BZ, United Kingdom

RECRUITING

Related Publications (3)

• Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmuller H. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017 Jul 4;12(1):124. doi: 10.1186/s13023-017-0671-8.

  PMID: 28676062 BACKGROUND

• Verhaart IEC, Robertson A, Leary R, McMacken G, Konig K, Kirschner J, Jones CC, Cook SF, Lochmuller H. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017 Jul;264(7):1465-1473. doi: 10.1007/s00415-017-8549-1. Epub 2017 Jun 20.

  PMID: 28634652 BACKGROUND

• Muni-Lofra R, Murphy LB, Adcock K, Farrugia ME, Irwin J, Lilleker JB, McConville J, Merrison A, Parton M, Ryburn L, Scoto M, Marini-Bettolo C, Mayhew A. Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK. Front Neurol. 2022 May 30;13:866243. doi: 10.3389/fneur.2022.866243. eCollection 2022.

  PMID: 35707038 BACKGROUND

Related Links

• UK SMA Patient Registry website

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Neuromuscular Diseases; Motor Neuron Disease; Bulbo-Spinal Atrophy, X-Linked; Spinal muscular atrophy with respiratory distress 1; Spinal Muscular Atrophies of Childhood

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Chiara Marini-Bettolo, MD, PhD

  Newcastle University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Patient Registry manager and curator

CONTACT

0191 2418640; smaregistry@newcastle.ac.uk

Chiara Patient Registry Team

CONTACT

registries@newcastle.ac.uk

Study Design

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

Study Record Dates

• First Submitted: February 28, 2020
• First Posted: March 3, 2020
• Study Start: July 13, 2008
• Primary Completion: May 31, 2025
• Study Completion: May 31, 2025
• Last Updated: July 23, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)