Phenylalanine hydroxylase deficiency
别名
PAH deficiency
近两年的全球研究 72L2
2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-09开放获取The success-failure inversion in modern medicine
- 2026-09开放获取Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis
- 2026-08开放获取The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
- 2026-08Bone mineral density in participants with phenylalanine hydroxylase (PAH) deficiency: a report from the PHEFREE rare disorders consortium
- 2026-08预印本The spectrum of PAH variants and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency in Inner Mongolia, China
- 2026-08开放获取Health-related quality of life and its influencing factors in Chinese patients with phenylketonuria
- 2026-08开放获取Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden
- 2026-07开放获取Clinical application value of preconception and prenatal carrier screening in Yinchuan
- 2026-07综述开放获取A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China
- 2026-07开放获取Analysis of <i>PAH</i> Genetic Variation and Phenotypic Diversity in the PAHvdb
- 2026-07开放获取Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China
- 2026-07Genotype-phenotype relationships in phenylalanine hydroxylase deficiency: Functional annotation-enhanced analysis of 23,427 individuals
- 2026-07综述开放获取Mapping the Severity of Phenylalanine Hydroxylase Deficiency
- 2026-06Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening
- 2026-06综述病例报告开放获取Inborn errors of immunity in Low German Mennonite communities in Mexico: a case series and narrative literature review
- 2026-06开放获取Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation
- 2026-06Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the <sup>13</sup>C-phenylalanine breath test
- 2026-06A phenylketonuria mouse model exhibits EEG spike-wave discharges: Effects of sleep deprivation and low-Phe diet
- 2026-05综述开放获取Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies
- 2026-05开放获取Concurrent Phenylalanine Hydroxylase-Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management
境外已获批用于本病的药物 5L2
欧盟 2 项、美国 3 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Kuvan欧盟2008-12-02sapropterin官方记录
- Sephience欧盟2025-06-19sepiapterin官方记录
- Kuvan美国2007-12-13sapropterin官方记录
- PALYNZIQ美国2018-05-24pegvaliase-pqpz官方记录
- Sephience美国2025-07-28sepiapterin官方记录
尚未获批的在研药物（8 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，不代表这个药已被证明有效，也不代表将来一定能上市，绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- 5,6,7,8-Tetrahydrobiopterin欧盟2003-10-02Treatment of hyperphenylalaninaemia官方记录
- particles comprised of methacrylic acid based co-polymer, cross-linked欧盟2016-11-18Treatment of hyperphenylalaninaemia官方记录
- Escherichia coli, strain Nissle 1917, expressing high affinity phenyla欧盟2023-04-21Treatment of hyperphenylalaninaemia官方记录
- 2,4-Diamino-5-[[5-(1H-pyrazol-5-yl)-2-thienyl]methyl]-1H-pyrimidin-6-o欧盟2024-05-24Treatment of hyperphenylalaninaemia官方记录
- (R)-3-(1-Cyclopropyl-3-(2-fluoro-4-(trifluoromethoxy)benzyl)ureido)pip欧盟2024-06-28Treatment of hyperphenylalaninaemia官方记录
- adeno-associated virus vector serotype SNY001 containing the human PAH欧盟2025-02-26Treatment of hyperphenylalaninaemia官方记录
- Valine, isoleucine and leucine美国1996-01-05Treatment of hyperphenylalaninemia官方记录
- Particles comprised ofmethacrylic acid based co-polymer, cross-linked 美国2020-02-27Treatment of hyperphenylalaninemia官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 7L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 4
- 招募中NCT06687733Safety and Efficacy Study of NGGT002 in Adult Patients With Phenylketonuria中国研究中心 2 个：Bengbu、Shanghai
- 招募中NCT07672756A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)中国研究中心 1 个：Hefei
- 招募中NCT07685210GenSci144 Tablets Phase I Clinical Trial中国研究中心 1 个：Jinan
- 尚未开始招募NCT07318909To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria中国研究中心 1 个：Hefei
其他状态的试验（3 项）
- 已完成NCT03864029Retrospective Observational Safety Effectiveness With Kuvan in hpA中国研究中心 1 个：Chengdu
- 进行中·不再招募NCT06061614Safety and Efficacy Study of NGGT002 in PKU Adult Subjects中国研究中心 1 个：Bengbu
- 已完成NCT05948020Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria中国研究中心 1 个：Shanghai
中国境外的在招试验 35L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国16英国5法国5波兰4澳大利亚4德国3加拿大2瑞士2意大利2捷克1日本1荷兰1西班牙1丹麦1另有 3 个国家/地区
CT.gov 报告命中 35 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07802366Acceptability and Tolerance Market Research of a Slow Release, Phenylalanine-free Protein Substitute for the Dietary Management of Phenylketonuria英国
- 招募中NCT07825883The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria波兰
- 招募中NCT07551921PheCheck™ Validation Study美国
- 招募中NCT07713758A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function美国
- 尚未开始招募NCT07671859PKU Microtablets Case Studies英国
- 招募中NCT07694440A Study of MZE782 in Adults With PKU美国
- 招募中NCT07477691Immune Modulation During Palynziq® Treatment in Adults (IMPALA)美国
- 招募中NCT07241234A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria波兰、美国
- 招募中NCT07446400A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together澳大利亚
- 招募中NCT07484945Multiomics Approach in Adult Patients With Phenylketonuria法国
- 尚未开始招募NCT07406009The Psychosocial Functioning of Adults With Phenylketonuria.
- 招募中NCT07220265Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers美国
- 招募中NCT07698743Eating Disorders in Patients With Phenylketonuria法国
- 招募中NCT06971731A Study of JNT-517 in Participants With Phenylketonuria (PKU)澳大利亚、加拿大、捷克、法国、德国、日本、荷兰、波兰 等 10 国
- 招募中NCT07728032Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU英国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）