Impact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre

Abstract

This study aims to evaluate the impact of the COVID-19 pandemic on the lysosomal disorders unit (LSDU) at Royal Free London NHS Foundation Trust (RFL), a highly specialised national service for diagnosis and management of adults with lysosomal storage disorders (LSD). Review of home care enzyme replacement therapy (ERT) and emergency care, and COVID-19 shielding categories as per UK government guidance. New clinical pathways were developed to manage patients safely during the pandemic; staff well-being initiatives are described. LSDU staff were redeployed and/or had additional roles to support increased needs of hospitalised COVID-19 patients. During the first lockdown in March 2020, 286 of 602 LSD patients were shielding; 72 of 221 had home care ERT infusions interrupted up to 12 weeks. During the pandemic, there was a 3% reduction in home care nursing support required, with patients learning to self-cannulate or require support for cannulation only. There were no increased adverse clinical events during this period. Twenty-one contracted COVID-19 infection, with one hospitalised and no COVID-19 related deaths. In 2020, virtual clinics were increased by 88% (video and/or telephone) compared to 2019. RFL well-being initiatives supported all staff. We provide an overview of the impact of the COVID-19 pandemic on staff and patients attending a highly specialised rare disease service. As far as we are aware, this is the first detailed narrative on the challenges and subsequent rapid adaptations made, both as part of a large organisation and as a specialist centre. Lessons learnt could be translated to other rare disease services and ensure readiness for any future pandemic.

Keywords: COVID-19; enzyme replacement therapy; lysosomal storage disorder; outpatient; restoration.

Figure 1

Royal Free London NHS Foundation Trust Lysosomal Disorders Unit (RFL‐LSDU): patient demographics. Red circles depict each United Kingdom (UK) county from where patients travel from to attend Royal Free London NHS Foundation Trust Lysosomal Disorders Unit for clinical care. Map of the UK adapted from https://www.picturesofengland.com/mapofengland/counties‐map.html.

Figure 2

Categorisation of lysosomal storage disorders patients (pts) into low, intermediate and high risk of severe COVID‐19 infection. Fabry disease (A), Gaucher disease (B), mucopolysaccharidosis (MPS) (C), Pompe disease (D) and other lysosomal storage disorders (LSD) (E) according to the shielding patient list algorithm. (), high risk (red); (), intermediate risk (amber); (), low risk (green).

Figure 3

Enzyme replacement treatment (ERT) interruption during the first phase of the COVID‐19 pandemic. Prior to the COVID‐19 outbreak, 221 patients (99 Fabry disease, 93 Gaucher disease, 12 Pompe disease, 17 mucopolysaccharidosis (MPS)) were receiving ERT. During the first phase of the emergency (from March to June 2020), 72 patients (39 Fabry disease, 16 Gaucher disease, 10 Pompe disease, 7 MPS) interrupted ERT during shielding. ERT was resumed in most patients at the end of the initial 12 weeks of shielding period, while 16 patients decided to continue ERT interruption for a further 4 weeks as per implementation of Government guidance on shielding until late July 2020. (), Gaucher disease; (), Fabry disease; (), Pompe disease; (), MPS. X‐axis: disease types; Y‐axis: percentage of patients on home care ERT.

Figure 4

Lysosomal storage disorder patient clinical follow‐up pathway. Schematic representation of the proposed framework developed by the Royal Free London NHS Foundation Trust Lysosomal Storage Disorders Unit. BIMDG, British Inherited Metabolic Disease Group; CAG, Clinical Advisory Group; CEV, clinically extremely vulnerable; Cr EDTA GFR, glomerular filtration rate using chromium‐51‐labelled ethylenediamine tetraacetic acid; DMT, disease‐modifying therapies; ERT, enzyme replacement therapy; GP, general practitioner; JCVI, Joint Committee on Vaccination and Immunisation; LSD, lysosomal storage disorders; LSDU, Lysosomal Storage Disorders Unit; MPS, mucopolysaccharidosis; NHSE, National Health Service England; OPD, outpatient; PPE, Personal Protective Equipment; REST, resilience and emotional support team; RFL, Royal Free London NHS Foundation Trust; RFLE, Royal Free London NHS Foundation Trust Executive; SOP, standard operating procedure; SPL, shielding patients list; SRT, substrate reduction therapy; UK, United Kingdom.