Stolwijk Nina N, Häberle Johannes, Huidekoper Hidde H, Wagenmakers Margreet A E M, Hollak Carla E M, Bosch Annet M
Medicines for Society (Medicijn voor de Maatschappij), Platform at Amsterdam UMC - University of Amsterdam, Amsterdam, The Netherlands.
Department of Endocrinology and Metabolism, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute, Expertise Center for inborn errors of Metabolism, MetabERN, University of Amsterdam, Amsterdam, The Netherlands.
J Inherit Metab Dis. 2025 Jan;48(1):e12815. doi: 10.1002/jimd.12815. Epub 2024 Dec 3.
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.
目前尿素循环障碍（UCDs）的管理指南提供了明确的策略，涵盖了授权和非授权的药品（包括静脉制剂和作为食品监管的产品）。这些不同类别的产品在可用性、报销和定价方面面临特定的获取挑战。本研究的目的是确定欧洲临床实践中优化UCD治疗实施的潜在障碍。一项针对欧洲管理UCD患者的代谢医疗保健专业人员（HCPs）的调查，通过欧洲遗传性代谢疾病参考网络以及欧洲中毒型代谢疾病登记处和网络进行传播。从21个欧洲国家收集了48份调查回复。在其中16个国家，至少有一名代谢HCP报告在获取UCD产品方面存在挑战。大多数产品（8/10）都报告了报销问题，包括授权和非授权产品。8/10的产品也报告了与可用性相关的挑战，不过无法获取仅限于非授权产品。价格影响了所有授权产品（3/3）和一种非授权静脉产品的获取。UCD治疗产品的可及性在欧洲各地有所不同，尽管没有明显的区域差异。调查数据显示，在大多数欧洲国家，代谢HCPs在获取用于UCD管理的授权和非授权产品方面都面临挑战。这表明注册非授权产品可能无法解决所有问题。改进报销政策和公平定价模式，以及（调整后的）授权程序可能有助于解决这些问题，从而优化UCD患者的治疗可及性。
