Medicine for Society, Platform at Amsterdam University Medical Center, 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. 2023 Nov;46(6):1017-1028. doi: 10.1002/jimd.12677. Epub 2023 Sep 13.
Dietary or nutritional management strategies are the cornerstone of treatment for many inborn errors of metabolism (IEMs). Though a vital part of standard of care, the products prescribed for this are often not formally registered as medication. Instead, they are regulated as food or as food supplements, impacting the level of oversight as well as reimbursed policies. This scoping literature review explores the European regulatory framework relevant to these products and its implications for current clinical practice. Searches of electronic databases (PubMed, InfoCuria) were carried out, supplemented by articles identified by experts, from reference lists, relevant guidelines and case-law by the European Court of Justice. In the European Union (EU), nutritional therapy products are regulated as food supplements, food for special medical purposes (FSMPs) or medication. The requirements and level of oversight increase for each of these categories. Relying on lesser-regulated food products to treat IEMs raises concerns regarding product quality, safety, reimbursement and patient access. In order to ascertain whether a nutritional therapy product functions as medication and thus could be classified as such, we developed a flowchart to assess treatment characteristics (benefit, pharmacological attributes, and safety) with a case-based approach. Evaluating nutritional therapy products might reveal a justifiable need for a pharmaceutical product. A flowchart can facilitate systematically distinguishing products that function medication-like in the management of IEMs. Subsequently, finding and implementing appropriate solutions for these products might help improve the quality, safety and accessibility including reimbursement of treatment for IEMs.
饮食或营养管理策略是许多先天性代谢缺陷（IEM）治疗的基石。尽管这些策略是标准治疗的重要组成部分，但为这些患者开具的治疗产品通常未正式注册为药物。相反，它们被归类为食品或食品补充剂，这会影响监管水平和报销政策。这项文献综述探讨了与这些产品相关的欧洲监管框架及其对当前临床实践的影响。通过对电子数据库（PubMed、InfoCuria）进行检索，并结合专家确定的文章、参考文献列表、相关指南和欧洲法院的案例法进行补充。在欧盟（EU），营养治疗产品被归类为食品补充剂、特殊医学用途食品（FSMP）或药物。这些类别对要求和监管水平都有所提高。依赖监管较少的食品产品来治疗 IEM 会引起人们对产品质量、安全性、报销和患者可及性的担忧。为了确定营养治疗产品是否作为药物发挥作用，从而可以将其归类为药物，我们开发了一个流程图，通过案例分析方法评估治疗特征（益处、药理学属性和安全性）。评估营养治疗产品可能会发现对药物产品有合理的需求。流程图可以帮助系统地区分在 IEM 管理中具有类似药物作用的产品。随后，为这些产品找到并实施适当的解决方案可能有助于提高 IEM 治疗的质量、安全性和可及性，包括报销。
