Adult SMA Research and Clinical Hub

NCT ID: NCT06978985

Last Updated: 2025-05-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-07-29

Study Completion Date

2027-04-30

Brief Summary

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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

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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.

Conditions

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Spinal Muscular Atrophy (SMA)

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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Participants with Spinal Muscular Atrophy

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

Risdiplam

Intervention Type DRUG

Risdiplam

Nusinersen Injectable Product

Intervention Type DRUG

Nusinersen

Interventions

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Risdiplam

Risdiplam

Intervention Type DRUG

Nusinersen Injectable Product

Nusinersen

Intervention Type DRUG

Other Intervention Names

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Evrysdi Spinraza

Eligibility Criteria

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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
Minimum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Newcastle University

OTHER

Sponsor Role collaborator

John Walton Muscular Dystrophy Research Centre

UNKNOWN

Sponsor Role collaborator

Biogen

INDUSTRY

Sponsor Role collaborator

Roche Products Limited

UNKNOWN

Sponsor Role collaborator

Newcastle-upon-Tyne Hospitals NHS Trust

OTHER

Sponsor Role lead

Responsible Party

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Chiara Marini Bettolo

Consultant Neurologist and Clinical Lead

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Prof Chiara Marini-Bettolo, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Newcastle-upon-Tyne Hospitals NHS Trust

Locations

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University Hospitals Birmingham NHS Foundation Trust

Birmingham, , United Kingdom

Site Status RECRUITING

North Bristol NHS Trust

Bristol, , United Kingdom

Site Status RECRUITING

Cambridge University Hospitals NHS Foundation Trust

Cambridge, , United Kingdom

Site Status RECRUITING

Cardiff and Vale University Health Board

Cardiff, , United Kingdom

Site Status RECRUITING

NHS Greater Glasgow and Clyde

Glasgow, , United Kingdom

Site Status RECRUITING

Bradford Teaching Hospitals NHS Foundation Trust

Leeds, , United Kingdom

Site Status RECRUITING

The Walton Centre NHS Foundation Trust

Liverpool, , United Kingdom

Site Status RECRUITING

University College London Hospitals NHS Foundation Trust

London, , United Kingdom

Site Status RECRUITING

King's College Hospital NHS Foundation Trust

London, , United Kingdom

Site Status RECRUITING

St George's University NHS Foundation Trust

London, , United Kingdom

Site Status RECRUITING

Newcastle-upon-Tyne Hospitals NHS Trust

Newcastle upon Tyne, , United Kingdom

Site Status RECRUITING

Nottingham University Hospitals Trust

Nottingham, , United Kingdom

Site Status RECRUITING

The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust

Oswestry, , United Kingdom

Site Status RECRUITING

Oxford University Hospitals Trust

Oxford, , United Kingdom

Site Status RECRUITING

The Northern Care Alliance NHS Foundation Trust

Salford, , United Kingdom

Site Status RECRUITING

Sheffield Teaching Hospitals NHS Foundation Trust

Sheffield, , United Kingdom

Site Status RECRUITING

University Hospital Southampton NHS Foundation Trust

Southampton, , United Kingdom

Site Status RECRUITING

South West Wales Neuromuscular Service in Swansea

Swansea, , United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Central Contacts

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Adult SMA REACH Team

Role: CONTACT

+4401912418610

Facility Contacts

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Role: primary

+4401214242000

Role: primary

+4401179505050

Role: primary

+4401223805000

Role: primary

+4401412012466

Role: primary

+4401274 542200

Role: primary

+4401515253611

Role: primary

Role: primary

+4401159691169

Role: primary

+4401691404000

Role: primary

+4403003047777

Role: primary

+4401617897373

Role: primary

+4401142711900

Role: primary

+4403330143694

Role: primary

+4401792545753

Related Links

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Other Identifiers

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9832

Identifier Type: -

Identifier Source: org_study_id

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