UK SMA Patient Registry Update - June 2021

25 June 2021

The UK SMA Patient Registry collects clinical and genetic information from individuals with Spinal Muscular Atrophy (SMA). Launched in 2008 and coordinated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, the registry currently holds patient-entered data on more than 500 SMA patients living within the UK and Ireland.

The registry disseminates SMA-relevant information to participants; provides a valuable source of information to academics, industry and healthcare professionals around the world, supporting research and the continued development of standards of care; and seeks to provide support to the SMA community. Registration is patient-initiated through a secure online portal from the registry website. Once consent has been given, participants are invited to complete a short questionnaire about their condition (Table 1).

Data items collected in the UK SMA Patient Registry

Table 1: The UK SMA Patient Registry collects the TREAT-NMD Expanded SMA Core Dataset.

To give a snapshot of some of the information held within the registry, a few data items are presented below:

Registry participants are distributed throughout the UK and Ireland (Figure 1). Of the 542 participants, the majority live in England (83.0%), followed by Scotland (7.4%) and Ireland (5.4%). SMA patients living in Wales (2.4%) and Northern Ireland (1.8%) make up a smaller percentage of registry participants. This map reflects the distribution of participants of the UK SMA Patient Registry only and not that of the wider SMA community.

Figure 1: Distribution of participants of the UK SMA Patient Registry in the countries of the UK and in Ireland (542 participants in total).

The greatest number of registry participants report a diagnosis of SMA type 2 (41%, Figure 2). SMA type 3 is reported by 30% and SMA type 1, reported by 11% of registry participants. Two percent of participants report a diagnosis of SMA type 4 and a further 2% report other forms of SMA, for example, distal SMA and SMA with respiratory distress type 1 (SMARD1). A number of participants have not yet reported their SMA subtype.

Figure 2: The reported SMA subtypes of UK SMA Patient Registry participants (542 participants in total).

Over the last year, participants have made a huge effort tracking down their genetic reports or doctors’ letters that confirm their genetic diagnosis of SMA and have informed the registry curator. As a result, 230 participants (42.4%) have their confirmed genetic diagnosis reported in the registry. Thank you!

Information about contractures experienced by participants is collected in the UK SMA Patient Registry. One hundred and eighteen participants provided data, 95 (86%) of whom reported that they experience contractures. The area of the body affected by these contractures is shown in Figure 3a. Contractures in the lower body are more common, with the highest percentage reported in the knees (60%), followed by the ankles (52%) and the hips (45%). Contractures in the upper body are experienced by between 25 and 32% of participants and contractures in the jaw are experienced by 15% participants. Many participants report being affected by contractures in more than one area of the body (Figure 3b).

a.

b.

Figure 3: a) Location of contractures experienced by registry participants (95 out of 118 participants reported having contractures); b) The percentage of participants who experience contractures in One to Eight different parts of the body.

UK SMA Patient Registry participants report whether they require assistance for airway clearance and/or secretion mobilisation and, if so, the type used and the frequency (Figure 4). One hundred and eleven participants responded, 44 (39.6%) of whom reported that they use assistance for airway clearance. The cough assist device was the most common form of assistance used and with highest frequency.

Figure 4: Type and frequency of assistance used for airway clearance and/or secretion mobilisation (used by 44 out of 111 participants).

Within the last year, the UK SMA Patient Registry has begun collecting the TREAT-NMD Expanded SMA Core Dataset. The TREAT-NMD Alliance is a network of excellence, seeking to advance diagnosis, care and treatment for those living with neuromuscular diseases around the world. The UK SMA Patient Registry has been affiliated with TREAT-NMD since its beginning and is associated with the TREAT-NMD Global SMA Registry, a network of national SMA registries across the world. The expanded dataset was developed for the purpose of collecting information from SMA patients in greater depth. It also includes the collection of post-marketing data which will help researchers understand the longer-term impact of new drug therapies upon SMA disease progression.

Please do visit the registry website where you can find more information and register online. If you are already part of the registry, it would be great if you could log in to have a look through your information and update it if needed. The registry is only as useful as the information it contains so it is really important to keep all details as up to date as possible. If you have any questions about the registry please get in touch with Lindsay Murphy, the Registry Curator:

E-mail: registries@newcastle.ac.uk

Website: www.treat-nmd.org.uk/registry/