Spinal Muscular Atrophy (SMA)
Conditions
Keywords
SMA, Data collection, Adult SMA, SMA REACH, Data collection study, Spinal, Muscular Atrophy, Spinal, real-world data
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.
Interventions
DRUGRisdiplam
Risdiplam
Nusinersen
Sponsors
Newcastle University
John Walton Muscular Dystrophy Research Centre
Biogen
Roche Products Limited
Newcastle-upon-Tyne Hospitals NHS Trust
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Healthy volunteers
No
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16 years of age * No signed informed consent or consent withdrawn
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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). |
Countries
United Kingdom
Contacts
Primary ContactAdult SMA REACH Team
Outcome results
None listed