Adult SMA Research and Clinical Hub

Recruiting

• Conditions: Spinal Muscular Atrophy (SMA)
• Interventions: Drug: Risdiplam; Drug: Nusinersen Injectable Product

• Registration Number: NCT06978985
• Lead Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust

Brief Summary

Adult SMA REACH is a data collection study aiming to gain a better understanding of the impact of standards of care and new treatments on the natural history of Spinal Muscular Atrophy (SMA). This study is sponsored by The Newcastle upon Tyne Hospitals NHS Foundation Trust. Adult SMA REACH is funded by Biogen and Roche.

Currently, there are three drug treatments available for SMA in the UK: Zolgensma, Nusinersen and Risdiplam. Zolgensma is the only approved drug - Nusinersen and Risdiplam are currently available as part of Managed Access Agreements (MAA).

Detailed Description

Spinal muscular atrophy (SMA) is a genetic motor neuron disease with a broad spectrum of severity, affecting both infants and adults. Advances in treatment, including Nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), and Risdiplam (Evrysdi), have significantly improved patient outcomes, highlighting the need for stronger clinical networks to monitor the long-term effects of these therapies.

The Adult SMA REACH Study builds upon the success of SMA REACH UK, which has been instrumental in collecting natural history and treatment data for paediatric SMA patients. The study benefits from collaboration with TREAT-NMD, the UK SMA Patient Registry, and iSMAC, aligning with international efforts to harmonise SMA data collection. By leveraging Newcastle University's experience in global SMA initiatives, Adult SMA REACH aims to enhance patient care, inform clinical decision-making, and contribute to future SMA research.

Study Timeline

• Study Start: 2022-07-29
• Study First Submitted: 2025-04-07
• Status Verified: 2025-05
• Study First Submitted QC: 2025-05-09
• Last Update Submitted: 2025-05-09
• Study First Posted: 2025-05-18
• Last Update Posted: 2025-05-18
• Primary Completion: 2027-04-30
• Study Completion: 2027-04-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

Inclusion Criteria

• Age ≥16 years (when patients will begin the transition process to adulthood)
• Genetically confirmed diagnosis of 5q SMA
• Signed informed consent to take part in the study

Exclusion Criteria

• Non-5q SMA
• No genetic confirmation
• <16 years of age
• No signed informed consent or consent withdrawn

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Participants with Spinal Muscular Atrophy	Nusinersen Injectable Product	Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA.
Participants with Spinal Muscular Atrophy	Risdiplam	Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA.

Primary Outcome Measures

Name	Time	Method
World Health Organization (WHO) Motor Milestones	Baseline (at treatment initiation) and 6 monthly through study completion	The WHO motor milestone assessment is a six-item checklist that dichotomously assesses whether a child can sit independently, crawl, stand with/without support, and walk with/without support. It is used in the Adult SMA population and in this study to categorise individuals as 'non-sitters', 'sitters' or 'walkers'. Changes in this score (loss or gain in function) and maintenance of score from baseline throughout treatment duration is assessed.
Revised Upper Limb Module (RULM)	Baseline (at treatment initiation) and 6 monthly through study completion	The RULM is designed to capture upper limb function and consists of 19 items, and is scored out of 37 points (higher scores indicating better function).
6 Minute Walk Test (6MWT)	Baseline (at treatment initiation) and 6 monthly through study completion	The 6MWT, which measures the distance a patient is able to walk within 6 min is used for only ambulant adult SMA patients in this study.
The Hammersmith Functional Motor Scale Expanded (HFMSE)	Baseline (at treatment initiation) and 6 monthly through study completion	The HFMSE consists of 33 items, with a maximum of 66 points (higher scores indicating better function).
The Egen classification 2 (EK2) scale	Baseline (at treatment initiation) and 6 monthly through study completion	The EK2 is a functional scale that includes 17 items for eight daily-life categories (wheelchair use, wheelchair transfers, trunk mobility, eating, swallowing, breathing, coughing, fatigue). Each item is scored from 0 to 3 for a maximum of 51 points (higher scores indicating worse function).

Trial Locations

Locations (18)

University Hospitals Birmingham NHS Foundation Trust; 🇬🇧 Birmingham, United Kingdom

North Bristol NHS Trust; 🇬🇧 Bristol, United Kingdom

Cambridge University Hospitals NHS Foundation Trust; 🇬🇧 Cambridge, United Kingdom

Cardiff and Vale University Health Board; 🇬🇧 Cardiff, United Kingdom

NHS Greater Glasgow and Clyde; 🇬🇧 Glasgow, United Kingdom

Bradford Teaching Hospitals NHS Foundation Trust; 🇬🇧 Leeds, United Kingdom

The Walton Centre NHS Foundation Trust; 🇬🇧 Liverpool, United Kingdom

University College London Hospitals NHS Foundation Trust; 🇬🇧 London, United Kingdom

King's College Hospital NHS Foundation Trust; 🇬🇧 London, United Kingdom

St George's University NHS Foundation Trust; 🇬🇧 London, United Kingdom

Newcastle-upon-Tyne Hospitals NHS Trust; 🇬🇧 Newcastle upon Tyne, United Kingdom

Nottingham University Hospitals Trust; 🇬🇧 Nottingham, United Kingdom

The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust; 🇬🇧 Oswestry, United Kingdom

Oxford University Hospitals Trust; 🇬🇧 Oxford, United Kingdom

The Northern Care Alliance NHS Foundation Trust; 🇬🇧 Salford, United Kingdom

Sheffield Teaching Hospitals NHS Foundation Trust; 🇬🇧 Sheffield, United Kingdom

University Hospital Southampton NHS Foundation Trust; 🇬🇧 Southampton, United Kingdom

South West Wales Neuromuscular Service in Swansea; 🇬🇧 Swansea, United Kingdom