An observational study in Spinal Muscular Atrophy (SMA), sponsored by Newcastle-upon-Tyne Hospitals NHS Trust. Recruiting at 18 sites in United Kingdom. Open to participants aged 16 Years and older. Per ClinicalTrials.gov, last updated 2025-05-18.
Sponsored by Newcastle-upon-Tyne Hospitals NHS Trust · Observational
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).
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.
295 studies on the registry are indexed under Muscular Atrophy, Spinal; 77 are open to participants now.
This study's planned enrollment of 600 is above the median of 108 across 119 observational studies indexed under Muscular Atrophy, Spinal.
Browse Muscular Atrophy, Spinal studies →Newcastle-upon-Tyne Hospitals NHS Trust is the lead sponsor of 67 studies on the registry; 5 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA.
Drug: Risdiplam · Drug: Nusinersen Injectable Product
Risdiplam
Also known as: Evrysdi
Nusinersen
Also known as: Spinraza
World Health Organization (WHO) Motor Milestones
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.
Time frame: Baseline (at treatment initiation) and 6 monthly through study completion
Revised Upper Limb Module (RULM)
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).
Time frame: Baseline (at treatment initiation) and 6 monthly through study completion
6 Minute Walk Test (6MWT)
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.
Time frame: Baseline (at treatment initiation) and 6 monthly through study completion
The Hammersmith Functional Motor Scale Expanded (HFMSE)
The HFMSE consists of 33 items, with a maximum of 66 points (higher scores indicating better function).
Time frame: Baseline (at treatment initiation) and 6 monthly through study completion
The Egen classification 2 (EK2) scale
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).
Time frame: Baseline (at treatment initiation) and 6 monthly through study completion
Plan to share: No
Started Jul 2022 (actual). Primary completion is estimated for Apr 2027, 57 months after the start.
Of 60 observational studies under Muscular Atrophy, Spinal, half reached primary completion within 88 months of starting (the median), counting those still running; a quarter within 35 and three quarters within 114. This study's planned 57 months is below that.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Newcastle-upon-Tyne Hospitals NHS Trust