Adult SMA Research and Clinical Hub

NCT06978985 | Recruiting

• 1 other identifier: 9832
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 18

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).

Conditions

Spinal Muscular Atrophy (SMA)

Keywords

SMA; Data collection; Adult SMA; SMA REACH; Data collection study; Spinal; Muscular Atrophy, Spinal; real-world data

Outcome Measures

Primary Outcomes (5)

• 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.

  Baseline (at treatment initiation) and 6 monthly through study completion

• Revised Upper Limb Module (RULM)

  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)

  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)

  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

  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

Study Arms (1)

Participants with Spinal Muscular Atrophy

Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA.

Drug: Risdiplam; Drug: Nusinersen Injectable Product

Interventions

Risdiplam DRUG

Risdiplam

Also known as: Evrysdi

Participants with Spinal Muscular Atrophy

Nusinersen Injectable Product DRUG

Nusinersen

Also known as: Spinraza

Participants with Spinal Muscular Atrophy

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Non-5q SMA
• No genetic confirmation
• \<16 years of age
• No signed informed consent or consent withdrawn

Sponsors & Collaborators

• Newcastle-upon-Tyne Hospitals NHS Trust: lead
• Newcastle University: collaborator
• John Walton Muscular Dystrophy Research Centre: collaborator
• Biogen: collaborator
• Roche Products Limited: collaborator

Study Sites (18)

University Hospitals Birmingham NHS Foundation Trust

Birmingham, B15 2GW, United Kingdom

RECRUITING

North Bristol NHS Trust

Bristol, BS10 5NB, United Kingdom

RECRUITING

Cambridge University Hospitals NHS Foundation Trust

Cambridge, CB2 0QQ, United Kingdom

RECRUITING

Cardiff and Vale University Health Board

Cardiff, CF14 4XW, United Kingdom

RECRUITING

NHS Greater Glasgow and Clyde

Glasgow, G12 0XH, United Kingdom

RECRUITING

Bradford Teaching Hospitals NHS Foundation Trust

Leeds, BD9 6RJ, United Kingdom

RECRUITING

The Walton Centre NHS Foundation Trust

Liverpool, L9 7LJ, United Kingdom

RECRUITING

University College London Hospitals NHS Foundation Trust

London, NW1 2BU, United Kingdom

RECRUITING

King's College Hospital NHS Foundation Trust

London, SE5 9RS, United Kingdom

RECRUITING

St George's University NHS Foundation Trust

London, SW17 0QT, United Kingdom

RECRUITING

Newcastle-upon-Tyne Hospitals NHS Trust

Newcastle upon Tyne, NE1 3BZ, United Kingdom

RECRUITING

Nottingham University Hospitals Trust

Nottingham, NG5 1PB, United Kingdom

RECRUITING

The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust

Oswestry, SY10 7AG, United Kingdom

RECRUITING

Oxford University Hospitals Trust

Oxford, OX3 9DU, United Kingdom

RECRUITING

The Northern Care Alliance NHS Foundation Trust

Salford, M6 8HD, United Kingdom

RECRUITING

Sheffield Teaching Hospitals NHS Foundation Trust

Sheffield, S10 2JF, United Kingdom

RECRUITING

University Hospital Southampton NHS Foundation Trust

Southampton, SO16 6YD, United Kingdom

RECRUITING

South West Wales Neuromuscular Service in Swansea

Swansea, SA6 6NL, United Kingdom

RECRUITING

Related Links

• Related Info

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Interventions

Risdiplam; nusinersen

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Prof Chiara Marini-Bettolo, MD, PhD

  Newcastle-upon-Tyne Hospitals NHS Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Adult SMA REACH Team

CONTACT

+4401912418610; nuth.adultsmareach@nhs.net

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Consultant Neurologist and Clinical Lead

Study Record Dates

• First Submitted: April 7, 2025
• First Posted: May 18, 2025
• Study Start: July 29, 2022
• Primary Completion (Estimated): April 30, 2027
• Study Completion (Estimated): April 30, 2027
• Last Updated: May 18, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

GB (18)