Menu
Recruiting NCT06978985

Adult SMA Research and Clinical Hub

— Observational Spinal Muscular Atrophy (SMA)

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Risdiplam, Nusinersen Injectable Product.
Who it may be relevant to
Registry conditions: Spinal Muscular Atrophy (SMA). Basic parameters: from 16 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United Kingdom
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Adult SMA REACH: Development and Implementation of a Standardised Data Set and Data Collection Research Study in the UK Adult SMA Population

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).

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

  • Drug Risdiplam
    Risdiplam
  • Drug Nusinersen Injectable Product
    Nusinersen

Primary outcome measures

  • World Health Organization (WHO) Motor Milestones [Time frame: Baseline (at treatment initiation) and 6 monthly through study completion]
  • Revised Upper Limb Module (RULM) [Time frame: Baseline (at treatment initiation) and 6 monthly through study completion]
  • 6 Minute Walk Test (6MWT) [Time frame: Baseline (at treatment initiation) and 6 monthly through study completion]
  • The Hammersmith Functional Motor Scale Expanded (HFMSE) [Time frame: Baseline (at treatment initiation) and 6 monthly through study completion]
  • The Egen classification 2 (EK2) scale [Time frame: Baseline (at treatment initiation) and 6 monthly through study completion]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United Kingdom · 18 centers
  • University Hospitals Birmingham NHS Foundation Trust — Birmingham
  • North Bristol NHS Trust — Bristol
  • Cambridge University Hospitals NHS Foundation Trust — Cambridge
  • Cardiff and Vale University Health Board — Cardiff
  • NHS Greater Glasgow and Clyde — Glasgow
  • Bradford Teaching Hospitals NHS Foundation Trust — Leeds
  • The Walton Centre NHS Foundation Trust — Liverpool
  • University College London Hospitals NHS Foundation Trust — London
  • … and 10 more centers

Publications

  • 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 PMID 42413222
  • 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: 10.1177/221 PMID 41830075

Identifiers

NCT: NCT06978985 · 9832

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗