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

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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 Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Newcastle-upon-Tyne Hospitals NHS Trust

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Biogen
Newcastle University
Roche Products Limited
John Walton Muscular Dystrophy Research Centre

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • 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)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
July 29, 2022

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
April 30, 2027

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 30, 2027

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
April 7, 2025

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 9, 2025

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
May 18, 2025

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
May 18, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 9, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
May 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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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