J. J. Kenth1, E. Maughan2, S. Wilkinson1, M. de Kruijf1, S. Jones1, C. Butler2, I. A. Bruce1, R. Hewitt2, R. Nandi2

1The Royal Manchester Children's Hospital, UK

2Great Ormond Street Hospital for Children, London, UK


Mucopolysaccharidosis type IVA (MPS IVA or Morquio A Syndrome) is rare lysosomal storage disease associated with progressive, multi-level central airway obstruction due to tracheomalacia, stenosis, and tortuosity.  In severe phenotypes, disease progression culminates in near fatal, airway obstructions, which is the leading cause of death in this cohort [1,2].  Traditional management strategies have been palliative, focusing on symptom relief through non-invasive ventilation (NIV). We aimed to explore the critical role of multidisciplinary team (MDT) decision-making for a novel surgical approach (tracheal resection combined with partial upper manubriectomy) to ameliorate critical airway obstruction in children with MPS IVA [3].


Patients who progress to critical airway obstruction despite enzyme-replacement-therapy (ERT) lack definitive treatment options, with palliative care being the primary approach. This gap necessitates a novel surgical solution to manage the profound multi-level airway disease and improve quality of life.

Strategy for Change

In a collaborative effort to address near fatal airway obstruction in Morquio Syndrome, Royal Manchester Children's Hospital (RMCH), a leading European centre for metabolic disorders, partnered with Great Ormond Street Hospital (GOSH), home to the national tracheal service. A MDT approach was initiated to develop a referral-to-surgery pathway. This involved setting up a framework for pre-procedural planning, patient selection, and decision-making, leveraging the combined expertise of RMCH and GOSH. The strategy sought to refine the identification of surgical candidates and streamline the process from referral to surgery, optimising the timing for intervention

Measure of Improvement

The effectiveness of the new pathway was evaluated by measuring the referral-to-surgery time (4-6motnhs), postoperative improvements in respiratory function through spirometry, and enhanced quality of life via PedsQL(v4) questionnaires. Improvements were also sought in the consistency of MDT decision-making and the clarity of communication with referring centres and patients.

Lessons Learnt

The initiative demonstrated the critical importance of a centralised expertise and the benefits of a collaborative MDT approach. The robust referral pathway facilitated the surgical management of nine patients across the UK, with significant improvements noted postoperatively, validating the effectiveness of the strategy.

Message for Others

The centralised approach and shared decision making serve as a model for the management of rare diseases requiring highly specialised care. This QI project illustrates how pooling resources and knowledge within a national framework can lead to better patient outcomes and serve as a guide for similar high-risk interventions in other rare diseases.


This QI initiative underscores the value of a national referral pathway and MDT approach in managing complex airway diseases in Morquio A Syndrome. The collaborative efforts between RMCH and GOSH have not only improved patient outcomes but have also set the groundwork for the management of complex medical conditions, promoting a model that can be replicated for other rare diseases.


  1. Broomfield A, Kenth J, Bruce IA, Tan HL, Wilkinson S. Respiratory complications of metabolic disease in the paediatric population: A review of presentation, diagnosis and therapeutic options. Paediatric Respiratory Reviews. 2019 Nov;32:55–65.
  2. Kenth JJ, Thompson G, Fullwood C, Wilkinson S, Jones S, Bruce IA. The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA: A longitudinal analysis. Mol Genet Metab Rep. 2019 Sep;20:100487.
  3. Frauenfelder C, Maughan E, Kenth J, Nandi R, Jones S, Walker R, et al. Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome. Case Reports in Pediatrics. 2023 May 3;2023:e7976780.
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