When you first attend clinic, clinicians will assess how you are doing now so that they can have ‘standard baseline’ information. These include recording:

• nutritional status, including swallowing problems (see: The International Standards of Care for SMA / Nutrition, Growth & Bone Health)
• scoliosis (see: The International Standards of Care for SMA /Orthopaedic Management)
• fractures (see: The International Standards of Care for SMA – scroll down to Impact on the Bones and Bone Health for All)
• ventilation / respiratory events; respiratory function tests (see The International Standards of Care for SMA /Breathing (Respiratory & Pulmonary) Care).
• motor function using SMA validated scales appropriate for the level of function of the patient (see below)

Your first assessment for risdiplam, must be a face-to face assessment unless you have had treatment via the Early Access to Medicines Scheme in which case the arrangements are different.

Our thanks to the Sheffield Team for talking this through:

Your physio will discuss, which scales are most suitable with you. They use the best options they can from what measures are available and do recognise that these aren’t perfect by any means. It’s recognised that they only capture what this is like on the actual day of assessment – people can have ‘off’ days or really great days. The MAA has been set up to take this into consideration.

Ideally you will remain on one key scale for the length of the Managed Access Agreement. If this is unfeasible due to changes that mean the scale is no longer suitable, then a final reading of one scale will be taken at the same time as a baseline for the next reading. The new scale will then be used for your assessment.

The risdiplam MAA has set out what scales are to be used when:

All patients: will be assessed using the World Health Organization (WHO) gross motor milestones.

Children under 2 years of age (<2 years) who haven’t yet achieved independent walking: motor milestones will be assessed using:

• Section 2 of the Hammersmith Infant Neurological Examination (HINE) and
• The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

Patients who are 2 years of age or older, but have not yet achieved the maximum score of 64 with CHOP INTEND: will be assessed with

• Revised Hammersmith Scale (RHS) and
• CHOP INTEND

The RHS should be performed after the CHOP INTEND with an approximately 15 – minute rest period in between to allow the patient engagement in both assessments. Once a score of 64 is achieved, CHOP INTEND should no longer be assessed.

All non-ambulatory patients who are 30 months of age or older will have an assessment using:

• The Revised Upper Limb Measurement (RULM). This will continue to be used should patients subsequently become ambulatory

Additionally, though, as not all scales measure the same thing, you may be measured on more than one scale so that information that is important for you is captured. So, for example, an adult who is unable to sit independently may be assessed on three different scales:

• The Adult version of the CHOP-INTEND, ATEND – which is in development and measures motor ability
• The Egan Klassifikation 2 scale (EK2 – patient reported outcomes)
• The RULM (Upper limb strength / ability)

All capture different aspects of what’s going on for you.

Another possible scale for some gives information on both walking ability and fatigue:

• The 6MWT (6-minute walk test)

NICE states:

"A minimum of one data entry per patient per year is required to be captured after the initial assessment, with any two entries at least four months apart. Any missed clinic appointment for assessments should be rescheduled."

For each scale, the MAA defines how many points someone needs to drop for it to be considered that they have deteriorated. You can find more detail of this in Table 1. Endpoints, assessments and stopping rules on Page 7 of the Risdiplam Managed Access Agreement.

NHS England has also clarified that the equivalent measure of deterioration in the RULM scale is a deterioration of more than or equal to 2 points (>=2 points).

The MAA also recognises that people can have ‘off days’ so states that there need to be two consecutive measures taken that both show deterioration.

NICE states:

"If the patient has a worsening in any motor scale score the patient’s next assessments must take place within the next six months. Any patient not complying with the assessment schedule (without good reason) may be deemed as not complying with the terms of the managed access agreement and access to treatment may cease."

However, if you’re maintaining stability or improving on another scale that has been agreed as an important measurement for you, AND in the opinion of the treating clinician you’re continuing to receive clinical benefit from the treatment you are receiving, then the MAA says:

"Continuation of treatment may be considered’ and that ‘These cases should be discussed with the NHS England Clinical Panel."

We suggest you don’t worry about this until or if you get to this point, at which time we would expect you to be having quality discussions with your team about treatment options. In the unlikely event that you don’t feel listened to you might want to get in touch with one of the Patient Groups to talk through possible options open to you.