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Recorded in May 2020, during the first wave of the COVID-19 pandemic, this 60-minute webinar brings together Dr Christina Lampe, Prof. Maurizio Scarpa, Dr Dafne Horovitz and Dr Heather Lau to share how mucopolysaccharidosis (MPS) care was disrupted and adapted across Italy, Brazil and New York. For paediatricians and metabolic teams. (A historical record of early-pandemic experience — some clinical detail reflects the knowledge and guidance of May 2020.)
This panel, recorded in May 2020, captures how MPS and other lysosomal-storage-disease services were reorganised during the first wave of COVID-19. Prof. Maurizio Scarpa opens with an overview of SARS-CoV-2 and the emerging picture — the widespread ACE2 receptor expression, the severe inflammatory pneumonia, and the then-new reports of Kawasaki-like inflammatory syndromes in children — and reports that in an Italian cohort of 112 lysosomal patients the main harm was not the virus itself but the disruption of enzyme replacement therapy and follow-up, with many patients moved to home infusion. Dr Dafne Horovitz gives the Brazilian perspective, describing national rare-disease guidance, individualised decisions on continuing ERT, transport and supply barriers, telemedicine, and a series of MPS patients who caught COVID-19 with surprisingly mild courses. Dr Heather Lau describes New York at the pandemic's epicentre: proactively calling every lysosomal patient, flagging MPS patients as high-risk for their airway, cardiac and neurological vulnerabilities, and navigating overwhelmed emergency rooms, home-infusion and PPE shortages, and the loss of structure for neuronopathic patients. The panel converges on shared lessons — the strength and vigilance of the rare-disease community (no patient deaths reported among them), the value of an emergency medical document for patients who present to unfamiliar hospitals, the individualised risk-benefit approach to pausing or continuing ERT, and the lasting role of telemedicine and better cross-institution communication in preparing for future emergencies.
After viewing this webinar, participants will be able to:
MPS patients were considered high-risk because their underlying airway, cardiac and neurological involvement could compound COVID-19 — they are already flagged as difficult to intubate and ventilate. In practice, though, the panel found the main harm was often not the virus itself but the disruption of care, and several MPS patients who caught COVID-19 had surprisingly mild courses. No patient deaths were reported among the panellists' cohorts by May 2020.
The decision should be individualised for each patient, weighing disease status, age, multisystem involvement and comorbidities against the risk of exposure in travelling to and attending an infusion centre. Options used during the pandemic included switching to home infusion, moving to a lower-risk site, spacing infusions (for example every other week), or a monitored temporary pause — with weekly phone contact and a low threshold to resume if symptoms such as increased upper-airway secretions appeared. Some effects of missed infusions (airway secretions, abdominal volume) are reversible on resuming, while established cardiac and valve changes are not.
By proactively contacting patients, reorganising infusion centres with screening, masking, spacing and dedicated (non-redeployed) staff, expanding home infusion, and converting outpatient and rehabilitation care to telemedicine. A recurring theme was preparing an emergency 'to-go' document — an up-to-date list of medications, conditions, advance directives, contacts and the specialist's phone number — so that an unfamiliar emergency-room team could quickly understand this rare, complex disease and reach the MPS provider.
That the close, vigilant rare-disease community protected its patients well, but that awareness of MPS among non-specialist colleagues and communication between institutions must improve, so patients are safe even when they present away from their referral centre. The panel highlighted building telemedicine infrastructure, standardised emergency documentation, and treating the crisis as a learning opportunity to strengthen systems for the emergencies that will follow.
This content is intended for healthcare professionals only. The views expressed are those of the presenters and do not necessarily reflect those of Excellence in Pediatrics; their inclusion does not imply endorsement. The content is provided for educational purposes only and does not constitute medical advice or replace independent clinical judgement.