进行性骨化性纤维发育不全
Fibrodysplasia ossificans progressiva
定义 英文原文（暂无中文）
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
别名
进行性骨化性肌炎
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ACVR1 | activin A receptor type 1 | Disease-causing germline mutation(s) (gain of function) in |
临床表型 35
必现 100%1
- 异位性骨化 HP:0011986
极常见 99–80%11
- 拇趾形态异常 HP:0001844
- 椎骨形态异常 HP:0003468
- 第一跖骨异常 HP:0010054
- 韧带组织异位性骨化 HP:0011989
- 肌肉组织异位性骨化 HP:0011987
- 颈椎融合 HP:0002949
- 关节活动受限 HP:0001376
- 骨软骨瘤 HP:0030431
- 短拇趾 HP:0010109
- 脊柱强直 HP:0003306
- 皮下结节 HP:0001482
常见 79–30%11
- 股骨颈形态异常 HP:0003367
- 拇指形态异常 HP:0001172
- 脱发 HP:0001596
- 拇趾骨发育不良或发育不全 HP:0010058
- 指（趾）内弯 HP:0030084
- 听力受损 HP:0000365
- 髋关节发育不良 HP:0001385
- 髋痛 HP:0030838
- 骨折易感性增加 HP:0002659
- 呼吸功能不全 HP:0002093
- 脊柱侧弯 HP:0002650
偶见 29–5%7
- 深静脉血栓形成 HP:0002625
- 内生软骨瘤 HP:0030038
- 发育迟滞 HP:0001508
- 拇趾外翻 HP:0001822
- 淋巴水肿 HP:0001004
- 肾结石 HP:0000787
- 关节骨性联接 HP:0100240
罕见 <4–1%5
- 贫血 HP:0001903
- 骨成熟延迟 HP:0002750
- 青光眼 HP:0000501
- 智力障碍 HP:0001249
- 癫痫发作 HP:0001250
近两年的全球研究 264L2
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。
- 2026-07Body composition and energy expenditure of patients with Fibrodysplasia Ossificans Progressiva
- 2026-07病例报告Fibrodysplasia Ossificans Progressiva
- 2026-07A closed-loop cell therapy engineered to autonomously secrete activin A inhibitor protects from fibrodysplasia ossificans progressiva
- 2026-07Single-Cell dissection of fibrodysplasia ossificans progressiva identifies SPP1 as a mediator of macrophage-fibroadipogenic progenitors crosstalk
- 2026-06病例报告Fibrodysplasia Ossificans Progressiva: Clinicoradiological Insights Into a Rare Case
- 2026-06开放获取Meta-analysis of functional genomics studies reveals conserved cellular pathways required by viruses of pandemic concern
- 2026-06Development of the Fibrodysplasia Ossificans Progressiva FLare EXperience Revised (FOP-FLEX-R©) Questionnaire: A patient-reported outcome measure
- 2026-06综述开放获取Non-receptor tyrosine kinase signaling pathways and therapeutic implications
- 2026-06Hyperactive BMP and Mechanosignaling Remodel Chromatin to Drive Aberrant Osteogenesis in FOP
- 2026-06病例报告Long-term noninvasive ventilation in children with fibrodysplasia ossificans progressiva
- 2026-06开放获取Dose-, duration- and age-dependent effects of zoledronic acid on bone structure and mechanical properties in growing rice rats
- 2026-06综述开放获取The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease
- 2026-05USP24-dependent STAT2 stabilization mediates physiologic and pathologic bone formation
- 2026-05开放获取A Retrospective Comparison of Transcutaneous and End-Tidal Carbon Dioxide Monitoring in Pediatric Polysomnography
- 2026-05开放获取Interdisciplinary Study of the Clinical Phenotype of Patients with Fibrodysplasia Ossificans Progressiva (FOP) in Dental Practice: A Cross-Sectional Clinical-Statistical Analysis
- 2026-05病例报告开放获取Bone fragility in a post-intestinal transplant patient with mesenteric heterotopic ossification
- 2026-05病例报告开放获取Burosumab use in fibroblast growth factor-23-mediated hypophosphatemia in McCune-Albright syndrome/fibrous dysplasia
- 2026-05开放获取Periodontitis induces skeletal muscle atrophy by increasing circulating levels of activin A
- 2026-05开放获取Targeting Activin Receptor-like Kinase 2 Using Heterobifunctional Protein Degraders
- 2026-05开放获取Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum
境外已获批用于本病的药物 1L2
欧盟 0 项、美国 1 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。
- Sohonos美国2023-08-16palovarotene官方记录
已获孤儿药资格、尚未获批的在研药物（9 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。
- human monoclonal antibody against activin A欧盟2016-11-18Treatment of fibrodysplasia ossificans progressiva官方记录
- (R)‑tetrahydrofuran‑3‑yl 4‑(6‑(5‑(4‑ethoxy‑1‑isopropylpiperidin‑4‑yl)p欧盟2020-11-13Treatment of fibrodysplasia ossificans progressiva官方记录
- andecaliximab欧盟2024-02-19Treatment of fibrodysplasia ossificans progressiva官方记录
- zilurgisertib欧盟2025-08-22Treatment of fibrodysplasia ossificans progressiva官方记录
- saracatinib欧盟2026-01-09Treatment of fibrodysplasia ossificans progressiva官方记录
- garetosmab美国2017-01-19Treatment of fibrodysplasia ossificans progressiva官方记录
- (R)-tetrahydrofuran-3-yl 4-(6-(5-(4-ethoxy-1-isopropylpiperidin-4-yl)p美国2019-08-08Treatment of fibrodysplasia ossificans progressiva官方记录
- 2-Amino-N-(4-hydroxybicyclo[2.2.2]octan-1-yl)-5-(4-((1R,5S)-3-(tetrahy美国2020-07-21Treatment of fibrodysplasia ossificans progressiva官方记录
- Andecaliximab美国2024-03-19Treatment of fibrodysplasia ossificans progressiva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。
在中国开展的临床试验 3L2
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 1
- 招募中NCT05090891To Assess the Efficacy, Safety, and Tolerability of INCB000928 in Participants With Fibrodysplasia Ossificans Progressiva中国研究中心 4 个：Beijing、Shanghai
其他状态的试验（2 项）
- 已终止NCT05039515A Study to Assess the Effectiveness and Safety of 2 Dosage Regimens of Oral Fidrisertib (IPN60130) for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP).中国研究中心 4 个：Beijing、Shanghai
- 进行中·不再招募NCT05394116A Study to Assess Safety, Tolerability and Efficacy of Garetosmab Versus Placebo Administered Intravenously (IV) in Adult Participants With Fibrodysplasia Ossificans Progressiva (FOP)中国研究中心 1 个：Shanghai
中国境外的在招试验 5L2
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3加拿大1
CT.gov 报告命中 5 项，此处取回并展示最近的 4 项。
- 尚未开始招募NCT07559513A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
- 招募中NCT06724562IL1 Inhibition in FOP美国
- 招募中NCT06089616A Study to Document and to Further Describe Long-term Safety and Effectiveness of Palovarotene in Participants With Fibrodysplasia Ossificans Progressiva (FOP)加拿大、美国
- 招募中NCT02745158The Fibrodysplasia Ossificans Progressiva (FOP) Registry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）