目的:这项研究的目的是提供一系列有关意大利在管理苯丙酮尿症(PKU)患者中实际使用聚乙二醇酶的案例研究,并为目前正在接受和面对这种新型酶替代疗法的医疗保健专业人员提供实用的见解和支持。
方法:来自七个意大利领先治疗中心的11名PKU专家参加了在线虚拟会议,目的是根据发生的病例回顾他们使用pegvaliase的临床和实践经验。在选择案例时,我们特别考虑了所涉及的中心在全国范围内的代表性以及接受PKU治疗的患者数量.案件被彻底审查,通过全面的讨论,可以确定有关PEGvaliase疗法的关键信息。
结果:小组讨论了18例,11名男性和7名女性(年龄范围17-43岁)。在最后一次随访时(pegvaliase启动后长达111周),18名患者中有11名(61%)达到低于600μmol/l的Phe水平。不同案例的结果差异很大。所有病例都强调了pegvaliase在降低Phe水平方面的潜力,提高生活质量,促进社交技能和独立性。此外,这些病例突出了与PEGvaliase治疗相关的挑战,包括管理不良事件和确保患者的积极性和依从性。
结论:这是关于意大利用PEGValiase管理PKU患者的经验的第一份报告。鉴于在PKU管理中使用pegvaliase的实际数据有限,本系列病例提供了有关该国pegvaliase治疗的实际实施和管理的宝贵见解.持续的研究和数据收集对于确认和进步这种治疗至关重要。尽管存在潜在的挑战,pegvaliase疗法代表了在意大利管理PKU的实质性希望。患者教育,个性化治疗方法,和仔细监测是重要的,以确保最佳的患者结果。
OBJECTIVE: The aim of this study is to present a series of
case studies on the real-life use of pegvaliase in Italy in managing patients affected by
phenylketonuria (PKU) and provide practical insight and support to healthcare professionals currently approaching and facing this novel enzyme substitution therapy.
METHODS: A panel of 11 PKU experts from seven leading Italian treatment centers attended online virtual meetings with the aim of reviewing their clinical and practical experiences with pegvaliase based on occurred cases. In selecting the cases, specific consideration was given to the nationwide representation of the centers involved and to the number of patients with PKU managed. Cases were thoroughly reviewed, with comprehensive discussions enabling the identification of key take-home messages regarding pegvaliase therapy.
RESULTS: The panel discussed 18 cases, 11 males and 7 females (age range 17-43 years). At the last follow-up (up to 111 weeks after pegvaliase initiation), 11 out of 18 patients (61%) reached Phe levels below 600 μmol/l. Outcomes varied significantly across cases. All cases underscore the potential of pegvaliase in reducing Phe levels, enhancing the quality of life, and promoting social skills and independence. Additionally, the cases highlight the challenges associated with pegvaliase therapy, including managing adverse events and ensuring patient motivation and adherence.
CONCLUSIONS: This is the first report about the Italian experience of managing patients affected by PKU with pegvaliase. Given the limited real-world data on the use of pegvaliase in PKU management, this
case series offers valuable insights into the practical implementation and management of pegvaliase therapy in this Country. Continued research and data collection will be crucial to confirm and progress with this treatment. Despite potential challenges, pegvaliase therapy represents a substantial promise in managing PKU in Italy. Patient education, personalized treatment approaches, and careful monitoring are important to ensure optimal patient outcomes.