Adult SMA Research and Clinical Hub (REACH)

Newcastle-upon-Tyne Hospitals NHS Trust

Status: Enrolling

Conditions: Spinal Muscular Atrophy (SMA)

Treatments: Drug: Risdiplam; Drug: Nusinersen Injectable Product

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT06978985

9832

Details and patient eligibility

About

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).

Full 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.

Enrollment: 600 estimated patients

Sex: All

Ages: 16+ years old

Volunteers: No Healthy Volunteers

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• No signed informed consent or consent withdrawn

Trial design

600 participants in 1 patient group

Participants with Spinal Muscular Atrophy

Description:

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

Treatment:

Drug: Nusinersen Injectable Product

Drug: Risdiplam