进行性骨化性纤维发育不全

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

临床表型 35

近两年的全球研究 276L2

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综述开放获取
  Cell differentiation-related signaling pathways: biological functions, diseases and therapeutic targets
  Signal transduction and targeted therapy · DOI · Europe PMC
• 2026-09
  A novel and effective treatment for fibrodysplasia ossificans progressiva
  Lancet (London, England) · DOI · Europe PMC
• 2026-09
  Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial
  Lancet (London, England) · DOI · Europe PMC
• 2026-09病例报告开放获取
  Congenital Clubfoot as an Early Manifestation of Duchenne Muscular Dystrophy?
  Muscles (Basel, Switzerland) · DOI · Europe PMC
• 2026-09开放获取
  Proceedings of the 33rd European Paediatric Rheumatology Congress
  Pediatric rheumatology online journal · DOI · Europe PMC
• 2026-09开放获取
  Dual HBV cccDNA-linked HiBiT reporter hepatocyte models for screening of candidate cccDNA modulators
  Virulence · 被引 1 · DOI · Europe PMC
• 2026-09综述开放获取
  Macrophage-driven pathological ossification of the posterior longitudinal ligament: mechanistic insights and therapeutic opportunities
  Bone research · DOI · Europe PMC
• 2026-09开放获取
  In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson-Gilford Progeria Syndrome
  Aging cell · DOI · Europe PMC
• 2026-09开放获取
  The alpha and the omega (6 lipids): discovering dietary drivers of heterotopic ossification
  The Journal of clinical investigation · DOI · Europe PMC
• 2026-09开放获取
  Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1
  G3 (Bethesda, Md.) · DOI · Europe PMC
• 2026-08临床试验开放获取
  Palovarotene impact on fibrodysplasia ossificans progressiva (FOP): data from month 48 of the phase III MOVE trial
  JBMR plus · DOI · Europe PMC
• 2026-08开放获取
  BCX9250 is a potent small-molecule inhibitor of Activin A Receptor Type 1 (ACVR1/ALK2) for fibrodysplasia ossificans progressiva
  JBMR plus · DOI · Europe PMC
• 2026-08开放获取
  Bridging the medical cliff: a paediatric-adult continuity of care model for 2,341 young adults with rare diseases in China
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-08综述开放获取
  Advances in gene transfer technologies: comparing viral and non-viral vectors for therapeutic applications
  3 Biotech · DOI · Europe PMC
• 2026-08开放获取
  The socioeconomic impacts of fibrodysplasia ossificans progressiva: evidence from a retrospective case-control study in France
  JBMR plus · DOI · Europe PMC
• 2026-08综述开放获取
  Progress in high-throughput screening for drug and material discovery in orthopedic diseases: a literature review
  PeerJ · DOI · Europe PMC
• 2026-08综述开放获取
  Retinoic Acid Receptor γ Is a Ligand-Activated Gatekeeper to Stem Cell Developmental Progression
  International journal of molecular sciences · DOI · Europe PMC
• 2026-08开放获取
  Prenatal characteristics and clinical outcomes in 82 cases with agenesis of corpus callosum: single tertiary center experience
  BMC pregnancy and childbirth · DOI · Europe PMC
• 2026-08
  Adverse health outcomes across the life course in individuals with six rare bone diseases: a 10-year population-based cohort study
  European journal of endocrinology · DOI · Europe PMC
• 2026-08开放获取
  Synthesis and Reactions of Hydrazine Trifluoroborate Salts
  Organic letters · DOI · Europe PMC

境外已获批用于本病的药物 3L2

欧盟 0 项、美国 3 项。同一药物在两地各批一次的，会分别列出。

• Sohonos美国2023-08-16
  palovarotene
  官方记录
• Pasatru美国2026-08-19
  garetosmab-grts
  官方记录
• Atebrioz美国2026-09-25
  zilurgisertib
  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 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NCT05090891
  To Assess the Efficacy, Safety, and Tolerability of INCB000928 in Participants With Fibrodysplasia Ossificans Progressiva
  II 期 · 干预性 · 2022/05/05Incyte Corporation
  中国研究中心 4 个：Beijing、Shanghai

中国境外的在招试验 5L2

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NCT07559513
  A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
  III 期 · 干预性 · 2027/02/02Regeneron Pharmaceuticals
• 招募中NCT06724562
  IL1 Inhibition in FOP
  观察性 · 2025/04/01University of California, San Francisco
  美国
• 招募中NCT06089616
  A Study to Document and to Further Describe Long-term Safety and Effectiveness of Palovarotene in Participants With Fibrodysplasia Ossificans Progressiva (FOP)
  观察性 · 2024/12/05Ipsen
  加拿大、美国
• 招募中NCT02745158
  The Fibrodysplasia Ossificans Progressiva (FOP) Registry
  观察性 · 2015/07The International FOP Association
  美国

外部标识与链接