ArticleBone2013
The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases.
Article in Bone, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02322255 (A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva), which is not on this map. Cited by 38 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)
Who cites it
38 citing papers in PubMed, 76 citations in OpenAlex.
- A Pharmacokinetic, Safety, and Tolerability Trial of Palovarotene in Healthy Japanese and Non-Japanese Participants.European journal of drug metabolism and pharmacokinetics · 2023Trial
- Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP): Results of a Randomized, Placebo-Controlled, Double-Blind Phase 2 Trial.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Trial
- The socioeconomic impacts of fibrodysplasia ossificans progressiva: evidence from a retrospective case-control study in France.JBMR plus · 2026Article
- Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.Journal of applied genetics · 2026Review
- Machine Learning-Based Text Processing Reveals Research Trends in Heterotopic Ossification.Analytical cellular pathology (Amsterdam) · 2026Article
- Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis.Orphanet journal of rare diseases · 2025Article
- Identifying global trends from case reports of fibrodysplasia ossificans progressiva: a scoping review.Therapeutic advances in musculoskeletal disease · 2025Article
- ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report.Frontiers in pediatrics · 2025Article
- [Biomolecules · 2024Review
- Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader.Indian journal of pediatrics · 2024Article
- Oxidative phosphorylation is a pivotal therapeutic target of fibrodysplasia ossificans progressiva.Life science alliance · 2024Article
- Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.Orthopaedic surgery · 2024Article
- Review
- Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva.BMC medical research methodology · 2023Article
- The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva.Orphanet journal of rare diseases · 2023Article
- Functional comparison of human ACVR1 and zebrafish Acvr1l FOP-associated variants in embryonic zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.Nature communications · 2023Article
- Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective.Orphanet journal of rare diseases · 2022Review
- Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives.Orthopedic research and reviews · 2022Review
- Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva.Calcified tissue international · 2021Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Fibrodysplasia ossificans progressiva, an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic condition of skeletal metamorphosis in humans. We studied 72 patients with FOP in China and analyzed their phenotypes and genotypes comprising the world's largest ethnically homogeneous population of FOP patients. Ninety-nine percent of patients (71/72 cases) were of Han nationality; and 1% of patients (1/72 cases) were of Hui nationality. Based on clinical examination, 92% of patients (66/72 cases) had classic FOP; 4% of patients (3/72 cases) were FOP-plus; and 4% of patients (3/72) were FOP variants. Importantly, all individuals with FOP had mutations in the protein-coding region of activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). Ninety-seven percent of FOP patients (70/72 cases) had the canonical c.617G>A (p.R206H) mutation, while 3% of FOP patients (2/72 cases) had variant mutations in ACVR1/ALK2. Taken together, the genotypes and phenotypes of individuals with FOP from the Han nationality in China are similar to those reported elsewhere and support the fidelity of this ultra-rare disorder in the world's most highly populated nation and across wide racial, ethnic, gender and geographic distributions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.