卟啉病
Porphyria
定义 英文原文（暂无中文）
A group of rare hereditary metabolic diseases characterized by intermittent neurovisceral manifestations and/or skin lesions.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000
近两年的全球研究 1,272L2
2024/08 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。
- 2026-08[Cutaneous presentation of digestive tract disorders and liver disease]
- 2026-08High frequency of the PPOX p.Arg168His pathogenic variant among Brazilian patients with variegate porphyria
- 2026-07Patient-centered and coordinated therapy with RNA interference-based givosiran for acute hepatic porphyria: real-life experience for an ultra-rare disease from Romania
- 2026-07Challenges in Porphyria diagnosis and management: When variegate Porphyria meets HIV
- 2026-07Pancreatitis Associated With Givosiran: A Real-World Pharmacovigilance Study Based on the FAERS and EudraVigilance Databases
- 2026-07Cytotoxic CD8+ T Cells Persist and Show Transcriptional Priming in Lung Transplantation
- 2026-07From one-size-fits-all to on-demand: personalized crispr gene editing for rare genetic liver diseases
- 2026-07The BV calculator: a free, open-source web app for estimation of within-subject and between-subject biological variation
- 2026-07Letter to the Editor-Comment on "Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light-Induced Hemolytic Threshold Assessment"
- 2026-07Association of iron status during early pregnancy and the risk of gestational diabetes: a retrospective cohort study in Shanghai
- 2026-07综述Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies
- 2026-07Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production
- 2026-07MRI Brain Imaging Patterns in Acute Intermittent Porphyria: A Retrospective Observational Study with Clinico-Radiological Correlation
- 2026-07Tolerability of hormonal treatments in acute hepatic porphyria patients
- 2026-07Acute hepatic porphyrias in Mexico: A tale of challenges and achievements facing rare diseases
- 2026-07Patient selection refines total hip arthroplasty free survival after hip arthroscopy: an eighteen year, one thousand and fifty one hip cohort study
- 2026-07Porphyria-Safe Emergency Management in COVID-Associated GBS-Like Neuropathy: Why Early Medication Review Should Accompany PBG/ALA Testing
- 2026-07Complementary and alternative medicines and cannabis use among individuals with acute intermittent porphyria
- 2026-07Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long-Term Outcomes-A Case Study
- 2026-07Exercise performance in patients with heart failure and impaired iron transport: a single-centre retrospective study
境外已获批用于本病的药物 3L2
欧盟 1 项、美国 2 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。
已获孤儿药资格、尚未获批的在研药物（7 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，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。
- ciclopirox欧盟2018-01-17Treatment of congenital erythropoietic porphyria官方记录
- afamelanotide欧盟2024-07-25Treatment of variegate porphyria官方记录
- Heme arginate美国1988-03-10Treatment of symptomatic stage of acute porphyria.官方记录
- Histrelin美国1991-05-03Treatment of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria.官方记录
- afamelanotide美国2016-02-04Treatment of cutaneous variants of porphyria (which includes treatment and prevention of cutaneous manifestations of disease)官方记录
- Ciclopirox美国2018-04-17Treatment of congenital erythropoietic porphyria官方记录
- (1-{2-[(3S,4R)-1-[(3R,4R)-1-cyclopentyl-3-fluoro-4-(4-methoxyphenyl) p美国2020-06-08treatment of cutaneous variants of porphyria (which includes treatment and prevention of cutaneous manifestations of disease)官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。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。
中国境外的在招试验 7L2
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6比利时2法国2意大利2挪威2西班牙2英国2瑞典2加拿大1土耳其1德国1瑞士1中国台湾1
共 7 项。
- 招募中NCT07567131Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)比利时、加拿大、法国、意大利、挪威、西班牙、土耳其、英国 等 9 国
- 招募中NCT07024316A Study to Investigate the Improvement of Photosensitivity in Terms of Skin Lesions Associated With CEP Following Administration of Oral ATL-001 (Ciclopirox Oral Solution) in Participants Aged >18 Years of Age With CEP美国
- 招募中NCT06273644Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment挪威、瑞典
- 招募中NCT05502133Identification of Acute Intermittent Porphyria Modifying Genes美国
- 招募中NCT04883905ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)比利时、法国、德国、意大利、西班牙、瑞典、瑞士、中国台湾 等 10 国
- 招募中NCT01561157Longitudinal Study of the Porphyrias美国
- 可获取（拓展性用药）NCT07603401Expanded Access Program of Bitopertin For Participants With EPP or XLP美国
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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）