Adult SMA Research and Clinical Hub

Newcastle-upon-Tyne Hospitals NHS Trust600 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

600

Conditions

Spinal Muscular Atrophy (SMA)

Interventions

RisdiplamDRUG

Risdiplam

Nusinersen Injectable ProductDRUG

Nusinersen

Eligibility

Sex: ALLMin age: 16 Years

Medical Language ↔ Plain English

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16 years of age * No signed informed consent or consent withdrawn

Locations (18)

University Hospitals Birmingham NHS Foundation Trust

Birmingham, United Kingdom

Outcomes

Primary Outcomes

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.