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| Name | Class |
|---|---|
| Newcastle University | OTHER |
| John Walton Muscular Dystrophy Research Centre | UNKNOWN |
| Biogen | INDUSTRY |
| Roche Products Limited |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants with Spinal Muscular Atrophy | Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Risdiplam | Drug | Risdiplam |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 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). | 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. | 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). | 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). | Baseline (at treatment initiation) and 6 monthly through study completion |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Adult SMA REACH Team | Contact | +4401912418610 | nuth.adultsmareach@nhs.net |
| Name | Affiliation | Role |
|---|---|---|
| Prof Chiara Marini-Bettolo, MD, PhD | Newcastle-upon-Tyne Hospitals NHS Trust | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospitals Birmingham NHS Foundation Trust | Recruiting | Birmingham | B15 2GW | United Kingdom |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 42413222 | Derived | Karkkainen E, Page J, Segovia S, Simms L, Verdu-Diaz J, Carver A, Michell-Sodhi J, Tanner S, Moat D, Lofra RM, Marini-Bettolo C; Adult SMA REACH clinical network.. Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study. Neuromuscul Disord. 2026 Jun 9;65:106465. doi: 10.1016/j.nmd.2026.106465. Online ahead of print. | |
| 41830075 |
| Label | URL |
|---|---|
| Related Info | View source |
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| UNKNOWN |
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| Nusinersen Injectable Product | Drug | Nusinersen |
|
|
| North Bristol NHS Trust | Recruiting | Bristol | BS10 5NB | United Kingdom |
|
| Cambridge University Hospitals NHS Foundation Trust | Recruiting | Cambridge | CB2 0QQ | United Kingdom |
|
| Cardiff and Vale University Health Board | Recruiting | Cardiff | CF14 4XW | United Kingdom |
|
| NHS Greater Glasgow and Clyde | Recruiting | Glasgow | G12 0XH | United Kingdom |
|
| Bradford Teaching Hospitals NHS Foundation Trust | Recruiting | Leeds | BD9 6RJ | United Kingdom |
|
| The Walton Centre NHS Foundation Trust | Recruiting | Liverpool | L9 7LJ | United Kingdom |
|
| University College London Hospitals NHS Foundation Trust | Recruiting | London | NW1 2BU | United Kingdom |
|
| King's College Hospital NHS Foundation Trust | Recruiting | London | SE5 9RS | United Kingdom |
|
| St George's University NHS Foundation Trust | Recruiting | London | SW17 0QT | United Kingdom |
|
| Newcastle-upon-Tyne Hospitals NHS Trust | Recruiting | Newcastle upon Tyne | NE1 3BZ | United Kingdom |
|
| Nottingham University Hospitals Trust | Recruiting | Nottingham | NG5 1PB | United Kingdom |
|
| The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust | Recruiting | Oswestry | SY10 7AG | United Kingdom |
|
| Oxford University Hospitals Trust | Recruiting | Oxford | OX3 9DU | United Kingdom |
|
| The Northern Care Alliance NHS Foundation Trust | Recruiting | Salford | M6 8HD | United Kingdom |
|
| Sheffield Teaching Hospitals NHS Foundation Trust | Recruiting | Sheffield | S10 2JF | United Kingdom |
|
| University Hospital Southampton NHS Foundation Trust | Recruiting | Southampton | SO16 6YD | United Kingdom |
|
| South West Wales Neuromuscular Service in Swansea | Recruiting | Swansea | SA6 6NL | United Kingdom |
|
| Derived |
| Page J, Karkkainen E, Segovia S, Fitzsimmons S, Verdu-Diaz J, Murphy L, Benesperi G, Carver A, Simms L, Tanner S, Tasca G, Moat D, Michell-Sodhi J, Lofra RM, Marini-Bettolo C; Adult SMA REACH clinical network. Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy. J Neuromuscul Dis. 2026 Mar 13:22143602261433509. doi: 10.1177/22143602261433509. Online ahead of print. |
| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |
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| ID | Term |
|---|---|
| C000629884 | Risdiplam |
| C000590926 | nusinersen |
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