Spinal Muscular Atrophy (SMA)REACHNCT06978985
Adult SMA Research and Clinical Hub
An observational study of Spinal Muscular Atrophy (SMA), run by Newcastle-upon-Tyne Hospitals NHS Trust at 18 sites in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- What is being tested?
- Risdiplam and Nusinersen Injectable Product
- Type of treatment
- Injection or infusion
- How many people
- 600 participants
- Where
- 18 sitesUnited Kingdom
- Study dates
- 29 Jul 2022to 30 Apr 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Non-5q SMA
- No genetic confirmation
- <16 years of age
- No signed informed consent or consent withdrawn
Trial locations and contacts
18 sites in 1 country. Contact the study team or a site near you to ask about taking part.
18 sites in 1 country
United Kingdom18 sites, 18 recruiting
- Recruiting
University Hospitals Birmingham NHS Foundation Trust
Birmingham, B15 2GW
+4401214242000
Nicholas Davies
- Recruiting
North Bristol NHS Trust
Bristol, BS10 5NB
+4401179505050
Andria Merrison
- Recruiting
Cambridge University Hospitals NHS Foundation Trust
Cambridge, CB2 0QQ
+4401223805000
Charlotte Brierley
- Recruiting
Cardiff and Vale University Health Board
Cardiff, CF14 4XW
Hayley Davis
- Recruiting
NHS Greater Glasgow and Clyde
Glasgow, G12 0XH
+4401412012466
Maria E Farrugia
- Recruiting
Bradford Teaching Hospitals NHS Foundation Trust
Leeds, BD9 6RJ
+4401274 542200
Priya Shanmugarajah
- Recruiting
The Walton Centre NHS Foundation Trust
Liverpool, L9 7LJ
+4401515253611
Charlotte Dougan
- Recruiting
University College London Hospitals NHS Foundation Trust
London, NW1 2BU
Matt Parton
- Recruiting
King's College Hospital NHS Foundation Trust
London, SE5 9RS
Fiona Norwood
Laura Zambreanu
- Recruiting
St George's University NHS Foundation Trust
London, SW17 0QT
Clare Galtrey
- Recruiting
Newcastle-upon-Tyne Hospitals NHS Trust
Newcastle upon Tyne, NE1 3BZ
nuth.adultsmareach@nhs.net
Prof Chiara Marini Bettolo, MD, PhD
- Recruiting
Nottingham University Hospitals Trust
Nottingham, NG5 1PB
+4401159691169
Saam Sedehizadeh
- Recruiting
The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust
Oswestry, SY10 7AG
+4401691404000
Tracey Willis
- Recruiting
Oxford University Hospitals Trust
Oxford, OX3 9DU
+4403003047777
Stefen Brady
- Recruiting
The Northern Care Alliance NHS Foundation Trust
Salford, M6 8HD
+4401617897373
James Lilleker
- Recruiting
Sheffield Teaching Hospitals NHS Foundation Trust
Sheffield, S10 2JF
+4401142711900
Channa Hewamadduma
- Recruiting
University Hospital Southampton NHS Foundation Trust
Southampton, SO16 6YD
+4403330143694
Annamaria Kiss-csenki
- Recruiting
South West Wales Neuromuscular Service in Swansea
Swansea, SA6 6NL
+4401792545753
Richard Walters
About this study
Official title: 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).
Read the 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.
- Conditions
- Spinal Muscular Atrophy (SMA)
- Being tested
- Risdiplam, Nusinersen Injectable Product
- Keywords
- SMA, Data collection, Adult SMA, SMA REACH, Data collection study, Spinal, Muscular Atrophy, Spinal, real-world data
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RisdiplamDrug
Also called Evrysdi
Risdiplam
Nusinersen Injectable ProductDrug
Also called Spinraza
Nusinersen
| Study group | Role | What they receive |
|---|---|---|
| Participants with Spinal Muscular Atrophy | Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA. Receives: Drug: Risdiplam; Drug: Nusinersen Injectable Product |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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).
Measured: 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.
Measured: 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).
Measured: 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).
Measured: Baseline (at treatment initiation) and 6 monthly through study completion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2025
- Study start29 Jul 2022
- Primary completion30 Apr 2027 (estimated)
- Study completion30 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
- Sponsor type
- University, hospital or other
- Collaborators
- Newcastle University, John Walton Muscular Dystrophy Research Centre, Biogen, Hoffmann-La Roche
- Responsible party
- Principal investigator, Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust
- Investigators
- Prof Chiara Marini-Bettolo, MD, PhD, Principal investigator, Newcastle-upon-Tyne Hospitals NHS Trust
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06978985
- Sponsor's protocol ID
- 9832
- Acronym
- REACH
- Status last verified
- May 2025
- First submitted
- 7 Apr 2025
- Last updated
- 18 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Karkkainen E, Page J, Segovia S, Simms L, Verdu-Diaz J, Carver A, Michell-Sodhi J, Tanner S, Moat D, Lofra RM, Marini-Bettolo C; Adult SMA REACH clinical network.. Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study. Neuromuscul Disord. 2026 Aug;65:106465. doi: 10.1016/j.nmd.2026.106465. Epub 2026 Jun 9.
PubMed 42413222Page J, Karkkainen E, Segovia S, Fitzsimmons S, Verdu-Diaz J, Murphy L, Benesperi G, Carver A, Simms L, Tanner S, Tasca G, Moat D, Michell-Sodhi J, Lofra RM, Marini-Bettolo C; Adult SMA REACH clinical network. Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy. J Neuromuscul Dis. 2026 Mar 13:22143602261433509. doi: 10.1177/22143602261433509. Online ahead of print.
PubMed 41830075
Study at a glance
From the registry record, last updated by the sponsor on 18 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Adult SMA REACH: Development and Implementation of a Standardised Data Set and Data Collection Research Study in the UK Adult SMA Population
- ClinicalTrials.gov ID
- NCT06978985
- Acronym / sponsor ID
- REACH / 9832
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- SMA, Data collection, Adult SMA, SMA REACH, Data collection study, Spinal, Muscular Atrophy, Spinal, real-world data
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS TrustUniversity, hospital or other
- Collaborators
- Newcastle University, John Walton Muscular Dystrophy Research Centre, Biogen, Hoffmann-La Roche
- Study start
- 29 Jul 2022 (actual)
- Primary completion
- 30 Apr 2027 (estimated)
- Study completion
- 30 Apr 2027 (estimated)
- First posted
- 18 May 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Spinal Muscular Atrophy | – | Drug: Risdiplam, Drug: Nusinersen Injectable ProductParticipants over 16 years old with a genetically confirmed diagnosis of 5q SMA. |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- Non-5q SMA
- No genetic confirmation
- <16 years of age
- No signed informed consent or consent withdrawn
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RisdiplamAlso: EvrysdiRisdiplam | Drug | Participants with Spinal Muscular Atrophy |
| Nusinersen Injectable ProductAlso: SpinrazaNusinersen | Drug | Participants with Spinal Muscular Atrophy |
Primary outcome
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.
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).
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.
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).
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).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 May 2025.
- Derived from this study: PubMed 42413222Karkkainen E, Page J, Segovia S, Simms L, Verdu-Diaz J, Carver A, Michell-Sodhi J, Tanner S, Moat D, Lofra RM, Marini-Bettolo C; Adult SMA REACH clinical network.. Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study. Neuromuscul Disord. 2026 Aug;65:106465. doi: 10.1016/j.nmd.2026.106465. Epub 2026 Jun 9.
- Derived from this study: PubMed 41830075Page J, Karkkainen E, Segovia S, Fitzsimmons S, Verdu-Diaz J, Murphy L, Benesperi G, Carver A, Simms L, Tanner S, Tasca G, Moat D, Michell-Sodhi J, Lofra RM, Marini-Bettolo C; Adult SMA REACH clinical network. Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy. J Neuromuscul Dis. 2026 Mar 13:22143602261433509. doi: 10.1177/22143602261433509. Online ahead of print.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Prof Chiara Marini-Bettolo, MD, PhD principal investigator
Newcastle-upon-Tyne Hospitals NHS Trust
18 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy (SMA), run by Newcastle-upon-Tyne Hospitals NHS Trust at 18 sites in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 18 sites in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Adult SMA REACH Team (+4401912418610, nuth.adultsmareach@nhs.net), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
World Health Organization (WHO) Motor Milestones (time frame: Baseline (at treatment initiation) and 6 monthly through study completion). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06978985, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 May 2025.