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NCT Number: NCT06978985

Adult SMA Research and Clinical Hub

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).

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Key information

Conditions

Spinal Muscular Atrophy (SMA) Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

16 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Risdiplam

Drug

Risdiplam

Other names: Evrysdi

Nusinersen Injectable Product

Drug

Nusinersen

Other names: Spinraza

Primary outcomes

  1. World Health Organization (WHO) Motor Milestones

    Time frame: 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.

  2. Revised Upper Limb Module (RULM)

    Time frame: 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).

  3. 6 Minute Walk Test (6MWT)

    Time frame: 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.

  4. The Hammersmith Functional Motor Scale Expanded (HFMSE)

    Time frame: 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).

  5. The Egen classification 2 (EK2) scale

    Time frame: 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).

Study contacts

Contact information is provided by the study sponsor or research team.

Adult SMA REACH Team

CONTACT

[email protected]

+4401912418610

Sponsors and collaborators

Lead sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Other

Collaborators

  • Biogen
  • John Walton Muscular Dystrophy Research Centre
  • Newcastle University
  • Roche Products Limited

Registry information

Official study title

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

Acronym: REACH

Important dates

Study start
2022
Primary completion
2027
Study completion
2027
First posted
May 18, 2025
Registry last updated
May 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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