UK SMA Patient Registry

Spinal Muscular Atrophy Clinical Trial

Official title:

Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04292574
• Other study ID #: 22/NE/0131
• Status: Recruiting
• Start date: July 13, 2008
• Est. completion date: December 31, 2023

Study information

• Verified date: October 2022
• Source: Newcastle University
• Contact: Patient Registry manager and curator
• Phone: 0191 2418640
• Email: smaregistry[@]newcastle.ac.uk
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 800
• Est. completion date: December 31, 2023
• Est. primary completion date: December 31, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• SMA
• Spinal Muscular Atrophy

Intervention

Other:
• Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their conditions.

Locations

Country	Name	City	State
United Kingdom	John Walton Muscular Dystrophy Research Centre	Newcastle upon Tyne

Sponsors (5)

Lead Sponsor	Collaborator
Newcastle University	Adult SMA REACH, Biogen, Roche Pharma AG, SMA REACH UK

Country where clinical trial is conducted

United Kingdom, 

References & Publications (3)

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. — View Citation

Verhaart IEC, Robertson A, Leary R, McMacken G, König K, Kirschner J, Jones CC, Cook SF, Lochmüller 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. — View Citation

Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmüller 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. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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

External Links

•   UK SMA Patient Registry website