Adult SMA Research and Clinical Hub (REACH)

May 9, 2025 updated by: Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust

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

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).

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

600

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United Kingdom
      • Birmingham, United Kingdom, B15 2GW
        • Recruiting
        • University Hospitals Birmingham NHS Foundation Trust
        • Principal Investigator:
          • Nicholas Davies
        • Contact:
          • Phone Number: +4401214242000
      • Bristol, United Kingdom, BS10 5NB
        • Recruiting
        • North Bristol NHS Trust
        • Principal Investigator:
          • Andria Merrison
        • Contact:
          • Phone Number: +4401179505050
      • Cambridge, United Kingdom, CB2 0QQ
        • Recruiting
        • Cambridge University Hospitals NHS Foundation Trust
        • Contact:
          • Phone Number: +4401223805000
        • Principal Investigator:
          • Charlotte Brierley
      • Cardiff, United Kingdom, CF14 4XW
        • Recruiting
        • Cardiff and Vale University Health Board
        • Principal Investigator:
          • Hayley Davis
      • Glasgow, United Kingdom, G12 0XH
        • Recruiting
        • NHS Greater Glasgow and Clyde
        • Contact:
          • Phone Number: +4401412012466
        • Principal Investigator:
          • Maria E Farrugia
      • Leeds, United Kingdom, BD9 6RJ
        • Recruiting
        • Bradford Teaching Hospitals NHS Foundation Trust
        • Contact:
          • Phone Number: +4401274 542200
        • Principal Investigator:
          • Priya Shanmugarajah
      • Liverpool, United Kingdom, L9 7LJ
        • Recruiting
        • The Walton Centre NHS Foundation Trust
        • Contact:
          • Phone Number: +4401515253611
        • Principal Investigator:
          • Charlotte Dougan
      • London, United Kingdom, SE5 9RS
        • Recruiting
        • King's College Hospital NHS Foundation Trust
        • Principal Investigator:
          • Fiona Norwood
        • Principal Investigator:
          • Laura Zambreanu
      • London, United Kingdom, NW1 2BU
        • Recruiting
        • University College London Hospitals NHS Foundation Trust
        • Principal Investigator:
          • Matt Parton
      • London, United Kingdom, SW17 0QT
        • Recruiting
        • St George's University NHS Foundation Trust
        • Principal Investigator:
          • Clare Galtrey
      • Newcastle upon Tyne, United Kingdom, NE1 3BZ
        • Recruiting
        • Newcastle-upon-Tyne Hospitals NHS Trust
        • Contact:
        • Principal Investigator:
          • Prof Chiara Marini Bettolo, MD, PhD
      • Nottingham, United Kingdom, NG5 1PB
        • Recruiting
        • Nottingham University Hospitals Trust
        • Principal Investigator:
          • Saam Sedehizadeh
        • Contact:
          • Phone Number: +4401159691169
      • Oswestry, United Kingdom, SY10 7AG
        • Recruiting
        • The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust
        • Principal Investigator:
          • Tracey Willis
        • Contact:
          • Phone Number: +4401691404000
      • Oxford, United Kingdom, OX3 9DU
        • Recruiting
        • Oxford University Hospitals Trust
        • Contact:
          • Phone Number: +4403003047777
        • Principal Investigator:
          • Stefen Brady
      • Salford, United Kingdom, M6 8HD
        • Recruiting
        • The Northern Care Alliance NHS Foundation Trust
        • Principal Investigator:
          • James Lilleker
        • Contact:
          • Phone Number: +4401617897373
      • Sheffield, United Kingdom, S10 2JF
        • Recruiting
        • Sheffield Teaching Hospitals NHS Foundation Trust
        • Principal Investigator:
          • Channa Hewamadduma
        • Contact:
          • Phone Number: +4401142711900
      • Southampton, United Kingdom, SO16 6YD
        • Recruiting
        • University Hospital Southampton NHS Foundation Trust
        • Principal Investigator:
          • Annamaria Kiss-csenki
        • Contact:
          • Phone Number: +4403330143694
      • Swansea, United Kingdom, SA6 6NL
        • Recruiting
        • South West Wales Neuromuscular Service in Swansea
        • Contact:
          • Phone Number: +4401792545753
        • Principal Investigator:
          • Richard Walters

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Participants with Spinal Muscular Atrophy
Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA.
Drug: Risdiplam
Risdiplam
Other Names:
  • Evrysdi
Drug: Nusinersen Injectable Product
Nusinersen
Other Names:
  • Spinraza

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
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
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)
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.
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 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
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).
Baseline (at treatment initiation) and 6 monthly through study completion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Collaborators

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

Investigators

  • Principal Investigator: Prof Chiara Marini-Bettolo, MD, PhD, Newcastle-upon-Tyne Hospitals NHS Trust

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 29, 2022

Primary Completion (Estimated)

April 30, 2027

Study Completion (Estimated)

April 30, 2027

Study Registration Dates

First Submitted

April 7, 2025

First Submitted That Met QC Criteria

May 9, 2025

First Posted (Actual)

May 18, 2025

Study Record Updates

Last Update Posted (Actual)

May 18, 2025

Last Update Submitted That Met QC Criteria

May 9, 2025

Last Verified

May 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 9832

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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