University of Missouri, Columbia, MO, United States of America.
University of Pittsburgh, Pittsburgh, PA, United States of America.
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108541. doi: 10.1016/j.ymgme.2024.108541. Epub 2024 Jul 22.
Over fifty years have passed since the last large scale longitudinal study of individuals with PAH deficiency in the U.S. Since then, there have been significant changes in terms of treatment recommendations as well as treatment options. The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium was recently established to collect a more up-to-date and extensive longitudinal natural history in individuals with phenylketonuria across the lifespan. In the present paper, we describe the structure and methods of the PHEFREE longitudinal study protocol and report cross-sectional data from an initial sample of 73 individuals (5 months to 54 years of age) with PAH deficiency who have enrolled. Looking forward, the study holds the promise for advancing the field on several fronts including the validation of novel neurocognitive tools for assessment in individuals with PKU as well as evaluation of the long-term effects of changes in metabolic control (e.g., effects of Phe-lowering therapies) on outcome.
自上一次在美国对肺动脉高压缺乏症患者进行大规模纵向研究以来，已经过去了五十多年。自那时以来，治疗建议和治疗选择都发生了重大变化。苯丙氨酸家族和探索证据的研究人员（PHEFREE）联盟最近成立，旨在收集更及时、更广泛的关于整个生命周期内患有苯丙酮尿症个体的纵向自然史资料。在本文中，我们描述了 PHEFREE 纵向研究方案的结构和方法，并报告了初始样本中 73 名肺动脉高压缺乏症患者的横断面数据（5 个月至 54 岁），这些患者已经入组。展望未来，该研究有望在几个方面推动该领域的发展，包括验证用于 PKU 患者评估的新型神经认知工具，以及评估代谢控制变化（例如，降低苯丙氨酸治疗的影响）对结果的长期影响。
