Clinical trial NCT06978985: Adult SMA Research and Clinical Hub
Official title: Adult SMA REACH: Development and Implementation of a Standardised Data Set and Data Collection Research Study in the UK Adult SMA Population
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Spinal Muscular Atrophy (SMA)
Keywords: SMA
Data collection
Adult SMA
SMA REACH
Data collection study
Spinal
Muscular Atrophy, Spinal
real-world data
Lead sponsor: Newcastle-upon-Tyne Hospitals NHS Trust
Sponsor class: OTHER
Collaborators: name: Newcastle University
name: John Walton Muscular Dystrophy Research Centre
name: Biogen
name: Roche Products Limited
First posted: 2025-05-18
Enrollment: 600
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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.

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).

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.

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

Primary outcomes:
measure: World Health Organization (WHO) Motor Milestones
timeFrame: Baseline (at treatment initiation) and 6 monthly through study completion
measure: Revised Upper Limb Module (RULM)
timeFrame: Baseline (at treatment initiation) and 6 monthly through study completion
measure: 6 Minute Walk Test (6MWT)
timeFrame: Baseline (at treatment initiation) and 6 monthly through study completion
measure: The Hammersmith Functional Motor Scale Expanded (HFMSE)
timeFrame: Baseline (at treatment initiation) and 6 monthly through study completion
measure: The Egen classification 2 (EK2) scale
timeFrame: Baseline (at treatment initiation) and 6 monthly through study completion
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United Kingdom
facility: University Hospitals Birmingham NHS Foundation Trust
city: Bristol
country: United Kingdom
facility: North Bristol NHS Trust
city: Cambridge
country: United Kingdom
facility: Cambridge University Hospitals NHS Foundation Trust
city: Cardiff
country: United Kingdom
facility: Cardiff and Vale University Health Board
city: Glasgow
country: United Kingdom
facility: NHS Greater Glasgow and Clyde
city: Leeds
country: United Kingdom
facility: Bradford Teaching Hospitals NHS Foundation Trust
city: Liverpool
country: United Kingdom
facility: The Walton Centre NHS Foundation Trust
city: London
country: United Kingdom
facility: University College London Hospitals NHS Foundation Trust
city: London
country: United Kingdom
facility: King's College Hospital NHS Foundation Trust
city: London
country: United Kingdom
facility: St George's University NHS Foundation Trust
city: Newcastle upon Tyne
country: United Kingdom
facility: Newcastle-upon-Tyne Hospitals NHS Trust
city: Nottingham
country: United Kingdom
facility: Nottingham University Hospitals Trust
city: Oswestry
country: United Kingdom
facility: The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust
city: Oxford
country: United Kingdom
facility: Oxford University Hospitals Trust
city: Salford
country: United Kingdom
facility: The Northern Care Alliance NHS Foundation Trust
city: Sheffield
country: United Kingdom
facility: Sheffield Teaching Hospitals NHS Foundation Trust
city: Southampton
country: United Kingdom
facility: University Hospital Southampton NHS Foundation Trust
city: Swansea
country: United Kingdom
facility: South West Wales Neuromuscular Service in Swansea
Study officials:
affiliation: Newcastle-upon-Tyne Hospitals NHS Trust
name: Prof Chiara Marini-Bettolo, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: