This information is gathered in clinic at the treatment centre and shared with either the SMA REACH UK (children) or the Adult SMA REACH database. You will be asked to sign your consent to storing your data. The ’standard baseline information’ collected includes:

• Patient & assessment details
• SMA Type, including molecular genetic diagnosis
• cause of death in event of mortality
• nutritional status, including swallowing problems
• scoliosis
• motor function using SMA validated scales appropriate for the level of function of the patient
• fractures
• ventilation / respiratory events; respiratory function tests
• treatment use and outcomes, including reasons for treatment discontinuation

You can read more about what is involved in our page: Clinical Assessment Scales and Measures – what’s used, when?

You’ll have an opportunity to fully discuss what information will be collected from you and how it will be kept before you start treatment. You’ll be asked to sign two consent forms:

• one to receive treatment as part of the MAA, and consent to the agreement terms
• one to provide your permission to share your data with the database, the registry that is collecting and storing data as part of the MAA.

Data will continue to be collected or will continue for patients who:

• meet the stopping criteria and stop treatment
• choose to stop treatment or choose to use a different treatment for SMA
• currently receive treatment within the EAMS and are ineligible for treatment under the MAA.

However, data collection for these patients is not mandatory.

The REACH databases will be responsible for analysing the data collected within clinical practice and producing the corresponding reports that will be part of the NICE review.

PROMs or Quality of Life (QoL) data can help demonstrate the effect that a treatment has on a patient’s and caregiver’s well-being and their ability to perform everyday tasks. This data collection goes beyond what can be seen with clinical measurements.

Quality of Life (QoL) questionnaires are one way of capturing this information, questions may cover information about:

• Mobility/walking
• Ability to undertake daily activities: eating, washing and dressing, self-transfer etc.
• Limb/joint weakness
• Pain
• Fatigue
• Breathing difficulties, choking or swallowing
• Speech and other forms of communication
• Difficulties sleeping at night or daytime sleepiness
• Weight changes
• Problems with digestion
• Psychological and emotional well-being
• Ability to attend school / college
• Loss of earnings and productivity (employment)
• Ability to participate in society
• Impact on family

This data is now being collected via the UK SMA Patient Registry.

Resource utilisation

Measuring resource utilisation is important to understand the impact treatment has on the cost of care. The way that this information will be captured is still to be agreed between NHS England, NICE and Biogen. It will include:

• Number of patient admissions
• Number of medical investigations and therapies
• Use of medical equipment
• Costs associated with personnel involved in the management of SMA patients (e.g. the costs of employing personal assistants to provide care and support)

Clinical patient information will be kept centrally by the REACH databases and will be held securely in accordance with national regulations. SMA REACH UK is a network of independent NHS paediatric and adult healthcare professionals who work together to establish national agreement on medical and physiotherapy assessments, and standards of care for patients with Spinal Muscular Atrophy.

Information will be shared pseudo-anonymously with members of the NHS England SMA Clinical Panel, NICE, NHS England and the appropriate pharmaceutical company – Roche. Pseudonymised means replacing characteristics of personal data with a pseudonym, a unique value that does not allow the person to be directly identified without the use of additional information.