UK SMA Patient Registry

Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland

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.

Study Overview

• Status: Recruiting
• Conditions: Spinal Muscular Atrophy; SMA
• Intervention / Treatment: Other: Patient Registry

Detailed Description

Participants are asked to provide information by completing online questionnaires. The medical questionnaire asks specific questions about their SMA diagnosis and their condition, including their motor function, requirement of assistance for feeding or breathing, scoliosis, contractures, hospitalisations, other illnesses, medications and participation in clinical trials. Additional short questionnaires collect information about patients' experience of daily life, their activities and quality of life, also known as patient-reported outcome measures or PROMs. Participants are asked to forward a copy of their genetic results to the registry.

The registry collaborates closely with the clinical networks SMA REACH UK (paediatric) and Adult SMA REACH and with TREAT-NMD Alliance.

The SMA REACH networks collect clinician-reported medical and functional assessment data from consented SMA patients who attend participating neuromuscular clinics in the UK. Links between the SMA REACH clinical databases and the UK SMA Patient Registry have been developed to enable the consented sharing of limited and specific data. Currently, linkage enables the sharing of patient-level PROMs data collected by the registry with each patient's SMA REACH clinic and with the SMA REACH coordination teams. At clinic level, the data informs patient care. At project coordination level, the data is aligned with clinical data collected by SMA REACH. It is then anonymised, analysed and reported to regulatory authorities as part of managed access agreements (MAA) for SMA therapies. Future linkage will enable patient registry participants to view elements of their own clinical data entered into the SMA REACH database by their doctor.

• Study Type: Observational
• Enrollment (Anticipated): 800

Contacts and Locations

• Study Contact: Name: Patient Registry manager and curator; Phone Number: 0191 2418640; Email: smaregistry@newcastle.ac.uk
• Study Contact Backup: Name: Chiara Patient Registry Team; Email: registries@newcastle.ac.uk

Study Locations

• United Kingdom
  • Newcastle upon Tyne, United Kingdom, NE1 3BZ
    • Recruiting
    • John Walton Muscular Dystrophy Research Centre
    • Contact: Patient Registry manager and curator; Phone Number: 0191 2418640; Email: smaregistry@newcastle.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

Inclusion Criteria:

• All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results

Exclusion Criteria:

• There are no exclusion criteria for the registry

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants with Spinal Muscular Atrophy	Other: Patient Registry; Participants who have volunteered to participate will complete various questionnaires relating to their conditions.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Newcastle University
• Collaborators: Roche Pharma AG; Biogen; Adult SMA REACH; SMA REACH UK
• Investigators: Principal Investigator: Chiara Marini-Bettolo, MD, PhD, Newcastle University

Publications and helpful links

General Publications

• 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.
• 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.
• 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.

Helpful Links

• UK SMA Patient Registry website

Study record dates

Study Major Dates

• Study Start (ACTUAL): July 13, 2008
• Primary Completion (ANTICIPATED): December 31, 2023
• Study Completion (ANTICIPATED): December 31, 2023

Study Registration Dates

• First Submitted: February 28, 2020
• First Submitted That Met QC Criteria: February 28, 2020
• First Posted (ACTUAL): March 3, 2020

Study Record Updates

• Last Update Posted (ACTUAL): October 17, 2022
• Last Update Submitted That Met QC Criteria: October 12, 2022
• Last Verified: October 1, 2022

More Information

Terms related to this study

• Keywords: Motor Neuron Disease; Neuromuscular Diseases; Spinal Muscular Atrophy; SMA; Kennedy Disease; Bulbo-Spinal Atrophy, X-Linked; 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
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: 22/NE/0131

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No