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. 2025 Jan;48(1):e12815.
doi: 10.1002/jimd.12815. Epub 2024 Dec 3.

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals

Nina N Stolwijk  1   2 , Johannes Häberle  3 , Hidde H Huidekoper  4 , Margreet A E M Wagenmakers  5 , Carla E M Hollak  1   2 , Annet M Bosch  6 ; E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management
Collaborators, Affiliations

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals

Nina N Stolwijk et al. J Inherit Metab Dis. 2025 Jan.

Abstract

Current management guidelines for urea cycle disorders (UCDs) offer clear strategies, incorporating both authorized and non-authorized medicinal products (including intravenous formulations and products regulated as food). These varying product categories are subject to specific accessibility challenges related to availability, reimbursement, and pricing. The aim of this study is to identify potential obstacles to optimal UCD treatment implementation in European clinical practice. A survey aimed at metabolic healthcare professionals (HCPs) managing patients with UCDs in Europe was disseminated through the European Reference Network for Hereditary Metabolic Disorders and the European registry and network for intoxication type metabolic diseases. Forty-eight survey responses were collected from 21 European countries. In 16 of these countries, at least one metabolic HCP reported challenges in accessing UCD products. Reimbursement issues were reported for most products (8/10), including both authorized and non-authorized products. Availability-related challenges were also reported for 8/10 products, although unavailability was limited to non-authorized products. Prices impacted accessibility for all authorized products (3/3) and one non-authorized IV product. The accessibility of UCD treatment products varied across Europe, although no clear regional variations could be discerned. Survey data revealed that metabolic HCPs experience challenges in accessing both authorized and non-authorized products for UCD management in the majority of European countries. This indicates that registering unauthorized products may not resolve all issues. Improved reimbursement policies and fair pricing models, as well as (adjusted) authorization procedures may help address these concerns, thereby optimizing treatment access for UCD patients.

Keywords: (orphan) medicinal products; health care professional perspective; nutritional therapy; treatment access; urea cycle disorders.

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Conflict of interest statement

Outside of submitted work, H.H. has received a grant for Metakids and has served on an advisory board for BioMarin. M.W. reports to be involved in pre‐marketing studies with Ultragenyx and Moderna. Financial arrangements are made through the Erasmus MC. C.H. reports to be involved in pre‐marketing studies with Genzyme, Protalix, and Idorsia. Financial arrangements are made through AMC Research BV. N.S. and A.B. have no conflicts of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Reported factors impacting accessibility of urea cycle disorder (UCD) management products. *Multiple factors could be reported for one product, so totals may exceed the number of surveyed countries. HCPs, healthcare professionals; IV, intravenous.
See this image and copyright information in PMC

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