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Fibrodisplasia ossificante progressiva
ORPHA:337CID-10 · M61.1CID-11 · FB31.1OMIM 135100DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Sistema ósseoInício infantilHerança AD/Unknown
Também conhecida comoFOPMiosite ossificante progressivaFOP
Sinônimos clínicos: FOP · Miosite ossificante progressiva

A fibrodisplasia ossificante progressiva (FOP) é ​​uma doença hereditária gravemente incapacitante do tecido conjuntivo, caracterizada por malformações congênitas dos dedões dos pés e ossificação heterotópica progressiva que forma osso qualitativamente normal em locais extraesqueléticos característicos.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A fibrodysplasia ossificante progressiva é um distúrbio no qual o tecido muscular e o tecido conjuntivo, como tendões e ligamentos, são gradualmente substituídos por osso (ossificado), formando osso fora do esqueleto (extra-esquelético ou heterotópico) que limita o movimento. Esse processo geralmente se torna perceptível na primeira infância, começando pelo pescoço e ombros e avançando para o resto do corpo e para os membros.

A formação de osso extra-esquelético causa perda progressiva de mobilidade à medida que as articulações são afetadas. A incapacidade de abrir completamente a boca pode causar dificuldade ao falar e ao comer. Com o tempo, pessoas com a condição podem apresentar desnutrição devido aos problemas alimentares. Elas também podem ter dificuldades respiratórias como resultado da formação de osso extra ao redor da caixa torácica, que restringe a expansão dos pulmões.

Qualquer trauma nos músculos de um indivíduo com fibrodysplasia ossificante progressiva, como uma queda ou procedimentos médicos invasivos, pode desencadear episódios de inchaço e inflamação muscular (miosite) seguidos de ossificação mais rápida na área lesionada. As crises também podem ser provocadas por doenças virais, como a influenza.

Pessoas com a condição geralmente nascem com dedos grandes dos pés malformados. Essa anomalia dos dedos grandes dos pés é uma característica que ajuda a distinguir esse distúrbio de outros problemas ósseos e musculares. Indivíduos afetados também podem ter polegares curtos e outras anomalias esqueléticas.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
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Informacoes curadas por IA — podem conter imprecisoes

A fibrodisplasia ossificante progressiva (FOP) é ​​uma doença hereditária gravemente incapacitante do tecido conjuntivo, caracterizada por malformações congênitas dos dedões dos pés e ossificação heterotópica progressiva que forma osso qualitativamente normal em locais extraesqueléticos característicos.

Pesquisas ativas
8 ensaios
23 total registrados no ClinicalTrials.gov
Publicações científicas
995 artigos
Último publicado: 2026 Apr 8
Medicamentos
9 com registro
MIDAZOLAM, HYPOZAM, PRONTOMID

Tem tratamento?

✓ 9 medicamentos específicos desta doença (registro ANVISA, FDA ou SUS/CEAF)
Ver detalhes, fases e interações →
MIDAZOLAMHYPOZAMPRONTOMIDDORMONIDDORMIUMTELOZAMCLORIDRATO DE MIDAZOLAMDORMIRE
Mais 4 moléculas em estudo para esta doença.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.05
Worldwide
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 0%
CID-10: M61.1
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
19 sintomas
👂
Ouvidos
3 sintomas
🩸
Sangue
3 sintomas
🧠
Neurológico
3 sintomas
🫁
Pulmão
2 sintomas
🧬
Pele e cabelo
2 sintomas

+ 17 sintomas em outras categorias

Características mais comuns

100%prev.
HP:0003577
Obrigatório (100%)
100%prev.
Ossificação ectópica
100%prev.
Hálux valgo
Ocasional (29-5%)
100%prev.
Ossificação ectópica em tecido muscular
Muito frequente (99-80%)
100%prev.
Limitação do movimento do pescoço
Obrigatório (100%)
100%prev.
Concentração elevada de fosfatase alcalina circulante
Obrigatório (100%)
54sintomas
Muito frequente (16)
Frequente (11)
Ocasional (6)
Muito raro (7)
Sem dados (14)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.

Obrigatório (100%)100%
Ossificação ectópicaEctopic ossification
Muito frequente100%
Hálux valgoHallux valgus
Ocasional (29-5%)100%
Ossificação ectópica em tecido muscularEctopic ossification in muscle tissue
Muito frequente (99-80%)100%
Limitação do movimento do pescoçoLimitation of neck motion
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico995PubMed
Últimos 10 anos200publicações
Pico202354 papers
Linha do tempo
2026Hoje · 2026🧪 2013Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.

Curadoria gene-doença

fontes oficiais
ACVR1
ACVR1
ACVR1Activin receptor type-1Disease-causing germline mutation(s) (gain of function) inTolerante
VIAS BIOLÓGICAS (3)
Signaling by ActivinSignaling by NODALRegulation of signaling by NODAL
MECANISMO DE DOENÇA

Fibrodysplasia ossificans progressiva

A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.

VIAS REACTOME (1)
OUTRAS DOENÇAS (1)
fibrodysplasia ossificans progressiva
HGNC:171UniProt:Q04771

Medicamentos e terapias

PALOVAROTENEPhase 4

Mecanismo: Retinoic acid receptor gamma agonist

GARETOSMABPhase 3

Mecanismo: Inhibin beta A chain inhibitor

SARACATINIBPhase 2

Mecanismo: Tyrosine-protein kinase ABL inhibitor

MIDAZOLAMPhase 1

Mecanismo: GABA-A receptor; anion channel positive allosteric modulator

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

37 variantes patogênicas registradas no ClinVar.

🧬 ACVR1: NM_001111067.4(ACVR1):c.222T>G (p.Tyr74Ter) ()
🧬 ACVR1: NM_001111067.4(ACVR1):c.-183+287C>T ()
🧬 ACVR1: GRCh37/hg19 2q24.1-24.2(chr2:156006517-162061520)x1 ()
🧬 ACVR1: NM_001111067.4(ACVR1):c.1123C>T (p.Arg375Cys) ()
🧬 ACVR1: GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado1
3Fase 36
2Fase 28
1Fase 14
·Pré-clínico8
Medicamentos catalogadosEnsaios clínicos· 4 medicamentos · 23 ensaios
✓ Aprovados — podem ser usados hoje
PALOVAROTENE
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Fibrodisplasia ossificante progressiva

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Onde estão os ensaios

Com ensaio aberto em 7 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

23 ensaios clínicos encontrados, 8 ativos.

Distribuição por fase
NCT07559513 · A Study to Investigate the Safety, Pharmacokinetics (PK), an…Em breve
PHASE3
NCT05394116 · A Study to Assess Safety, Tolerability and Efficacy of Garet…Ativo
PHASE3🇧🇷 Brasil · 🇦🇺 Austrália · 🇨🇱 Chile +15
NCT06508021 · A Study of Andecaliximab in Participants With Fibrodysplasia…Ativo
PHASE2, PHASE3🇺🇸 Estados Unidos
NCT04307953 · Saracatinib Trial TO Prevent FOPAtivo
PHASE2🇩🇪 Alemanha · 🇳🇱 Países Baixos · 🇬🇧 Reino Unido
NCT05027802 · A Rollover Study to Further Evaluate the Safety and Efficacy…Concluído
PHASE3🇧🇷 Brasil · 🇦🇷 Argentina · 🇦🇺 Austrália +7
NCT03312634 · An Efficacy and Safety Study of Palovarotene for the Treatme…Concluído
PHASE3🇧🇷 Brasil · 🇦🇷 Argentina · 🇦🇺 Austrália +8
NCT06064656 · A Non-Interventional Study of Clinical Characteristics and M…Concluído
🇺🇸 Estados Unidos
NCT05099445 · Study to Evaluate the Pharmacokinetics, Safety, and Pharmaco…Concluído
PHASE1🇺🇸 Estados Unidos
NCT04818398 · Study of Single-Ascending Doses of DS-6016a in Healthy Japan…Concluído
PHASE1🇯🇵 Japão
NCT04665323 · An International Cross-sectional Survey to Evaluate the Burd…Concluído
🇺🇸 Estados Unidos
NCT04829773 · Study Evaluating the Effect of Food on the Pharmacokinetics …Concluído
PHASE1🇺🇸 Estados Unidos
NCT03188666 · A Study to Examine the Safety, Tolerability and Effects on A…Concluído
PHASE2🇨🇦 Canadá · 🇫🇷 França · 🇮🇹 Itália +5
NCT02322255 · A Natural History Study of Fibrodysplasia Ossificans Progres…Concluído
🇦🇷 Argentina · 🇦🇺 Austrália · 🇫🇷 França +3
NCT02279095 · An Open-Label Extension Study of Palovarotene Treatment in F…Concluído
PHASE2🇦🇷 Argentina · 🇦🇺 Austrália · 🇫🇷 França +2
NCT02190747 · An Efficacy and Safety Study of Palovarotene to Treat Preoss…Concluído
PHASE2🇫🇷 França · 🇬🇧 Reino Unido · 🇺🇸 Estados Unidos
NCT02066324 · Urine Sample Collection From FOP PatientsConcluído
🇺🇸 Estados Unidos
NCT05039515 · A Study to Assess the Effectiveness and Safety of 2 Dosage R…Encerrado
PHASE2🇦🇷 Argentina · 🇦🇺 Austrália · 🇧🇪 Bélgica +11
NCT02521792 · In-Home Evaluation of Episodic Administration of Palovaroten…Encerrado
PHASE2🇺🇸 Estados Unidos
NCT07301450 · An Expanded Access Program of Garetosmab in Adult Patients W…TEMPORARILY_NOT_AVAILABLE
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥈Melhor nível de evidência: Observacional
Timeline de publicações
541 papers (10 anos)
#1

Progressive ossification in an adolescent with fibrodysplasia ossificans progressiva.

BMJ case reports2026 Jan 12

Fibrodysplasia ossificans progressiva (FOP), also known as Munchmeyer disease or 'stone man syndrome', is a rare, disabling genetic disorder caused by an ACVR1/ALK2 mutation, resulting in progressive heterotopic ossification of muscles, tendons and ligaments. Even minor trauma can trigger flare-ups, causing joint fusion and severe disability.An early adolescent male presented with progressive joint stiffness, painful swellings and malnutrition. Examination revealed hallmark signs of FOP, including malformed great toes and widespread soft tissue ossification. Differential diagnoses such as progressive osseous heteroplasia and juvenile fibromatosis were excluded clinically. A biopsy was avoided due to the risk of disease exacerbation, and the diagnosis was made on clinical grounds.As no definitive cure exists, management was supportive with non-steroidal anti-inflammatory drugs for pain, nutritional supplementation and avoidance of surgery. Awareness and early recognition are crucial, while emerging therapies, such as palovarotene and gene-targeted approaches, hold promise for the future.

#2

Activation of PPARγ redirects fibro-adipogenic progenitors to replace ectopic bone with fat in models of fibrodysplasia ossificans progressiva and trauma-induced heterotopic ossification.

bioRxiv : the preprint server for biology2026 Mar 16

The pathologic, osteogenic differentiation of fibroadipogenic progenitor cells (FAPs) is the primary recognized contributor to ectopic bone formation in fibrodysplasia ossificans progressiva (FOP) and trauma-induced heterotopic ossification (HO). Both conditions are characterized by up-regulated BMP signaling - the former by a gene mutation rendering the BMP receptor ACVR1 susceptible to activation by inflammatory ligands (Activin A), and the latter by up-regulated presence of BMP2 ligand in the setting of unmutated BMP receptor. We performed an unbiased assessment of FDA-approved therapies which would optimally target the transcriptional aberrations observed in developing FOP and HO lesions based on publicly-available datasets. This analysis uncovered rosiglitazone, a peroxisome proliferator-activated receptor gamma (PPARγ) agonist as the highest scoring therapeutic option across three data sets for both conditions. Rosiglitazone treatment eliminated ectopic bone lesions in a mouse model of FOP, and replaced these lesions with ectopic adipose tissue; similarly, systemic and local rosiglitazone treatment eliminated ectopic bone lesions in a mouse model of trauma-induced HO and replaced these lesions with ectopic adipose tissue. Our findings were corroborated by a single case report from 2010 showing positive results with rosiglitazone in a non-diabetic patient with FOP, with no subsequent studies. Overall, our findings suggest that a previously FDA-approved therapeutic is likely to be a successful therapeutic agent for both FOP and trauma-induced HO, both conditions for which current therapeutic options remain inadequate.

#3

Content Validation of the Flares Diary: A Qualitative Analysis of the Flares Experience Within the Fibrodysplasia Ossificans Progressiva (FOP) Population.

Advances in therapy2026 Mar 10

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, autosomal dominant disorder characterized by episodic yet cumulative heterotopic ossification (HO) of connective tissues. Flare-ups, i.e., sites of local soft tissue inflammation, are associated with swelling, joint stiffness, and pain are commonly associated with FOP. This study aimed to investigate the content validity of the Flares Diary by gaining an in-depth understanding of the experience of FOP flare-ups in people with FOP and by debriefing the Flares Diary to assess the relevance, comprehensiveness, and understandability of the instrument. Adults with FOP who participated in the Phase 2 LUMINA-1 trial (NCT03188666) of garetosmab, or who were recruited by email via the International Fibrodysplasia Ossificans Progressiva Association, were enrolled in this study. Trained qualitative researchers conducted in-depth semi-structured interviews with all participants comprising concept elicitation and cognitive debriefing of the Flares Diary, with participants encouraged to describe flare-up symptoms and impacts in their own words. All interviews were conducted between March 3, 2022, and March 7, 2023. A conceptual model was developed based on participant-reported symptoms and impacts of flare-ups. Thematically analyzed interview transcripts from 20 adults with FOP identified concepts of localized and systemic symptoms, as well as impacts on participants' daily lives associated with flare-ups. Minimal issues were reported with understanding the Flares Diary, and participants found that the items were comprehensive and matched their own experience of flare-ups. The results confirm the adequacy of the Flares Diary and that the symptoms assessed are important to people with FOP. Graphical abstract available for this article. ClinicalTrials.gov identifier, NCT03188666.

#4

Atypical Clinical Presentation and Diagnostic Difficulties of a Rare Disease: Fibrodysplasia Ossificans Progressiva.

Pediatric dermatology2026 Mar 09

Fibrodysplasia ossificans progressiva, also known as Münchmeyer's disease, is a rare autosomal dominant genetic disorder characterized by progressive heterotopic ossification, ultimately resulting in a "stone man" phenotype. We present the case of a male infant who exhibited musculocutaneous manifestations during the neonatal period.

#5

A closed-loop cell therapy engineered to autonomously secrete Activin A inhibitor protects from fibrodysplasia ossificans progressiva.

bioRxiv : the preprint server for biology2026 Feb 13

Engineered cell therapies present an opportunity for endogenous, site-specific production of therapeutic agents. Here we describe a closed-loop cell therapy which secretes an inhibitor of Activin A, ActR2A-Fc, upon exposure to Activin A. We demonstrate in vivo therapeutic efficacy of this approach in a mouse model of fibrodysplasia ossificans progressiva (FOP), a morbid condition in which patients develop extensive heterotopic bony lesions in response to aberrant sensitivity to Activin A through a mutation in the type I BMP receptor ACVR1 (ACVR1 R206H). To blunt Activin A activity, we designed a transposon plasmid containing the transgene encoding ActR2A-Fc, with expression controlled by the BMP-responsive element (BRE). In cells containing the causative mutation, the BRE is pathologically activated upon exposure to Activin A. FOP-derived marrow cells modified with the BRE-ActR2AFc plasmid exhibited the desired closed-loop functionality, with increased ActR2A-Fc expression upon exposure to Activin A and reduced expression upon withdrawal of Activin A. Engineered marrow cells secreted bioactive ActR2A-Fc, and bone marrow transplantation of FOP marrow cells engineered with the BRE-ActR2AFc transposon into same-sex FOP mice resulted in absence of heterotopic bony lesions. Experiments with labeled, engineered FOP marrow cells verified trafficking of the therapeutic cells to sites at risk for FOP. These data provide proof-of-concept for the therapeutic utility of engineered cell therapy for the treatment of FOP.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC748 artigos no totalmostrando 198

2026

Activation of PPARγ redirects fibro-adipogenic progenitors to replace ectopic bone with fat in models of fibrodysplasia ossificans progressiva and trauma-induced heterotopic ossification.

bioRxiv : the preprint server for biology
2026

Content Validation of the Flares Diary: A Qualitative Analysis of the Flares Experience Within the Fibrodysplasia Ossificans Progressiva (FOP) Population.

Advances in therapy
2026

Atypical Clinical Presentation and Diagnostic Difficulties of a Rare Disease: Fibrodysplasia Ossificans Progressiva.

Pediatric dermatology
2026

A closed-loop cell therapy engineered to autonomously secrete Activin A inhibitor protects from fibrodysplasia ossificans progressiva.

bioRxiv : the preprint server for biology
2026

The role of muscle fascia in heterotopic ossification and maintenance of skeletal muscle integrity in fibrodysplasia ossificans progressiva.

Bone
2025

Fibrodysplasia Ossificans Progressiva: A rare disease.

The National medical journal of India
2026

Scoliosis in Fibrodysplasia Ossificans Progressiva: A Report of 4 Cases.

JBJS case connector
2026

Anesthetic and airway management for inguinal hernia repair in a pediatric patient with fibrodysplasia ossificans progressiva: a case report.

Journal of medical case reports
2026

First-In-Human Study to Assess the Pharmacokinetics and Safety of DS-6016a After Single Subcutaneous Injection in Healthy Japanese Adults.

Clinical pharmacology in drug development
2026

Hyperactive BMP and Mechanosignaling Remodel Chromatin to Drive Aberrant Osteogenesis in FOP.

bioRxiv : the preprint server for biology
2026

Surgical Treatment of a Type IIIA Open Tibia Fracture in a Patient with Fibrodysplasia Ossificans Progressiva: A Case Report.

JBJS case connector
2026

Progressive ossification in an adolescent with fibrodysplasia ossificans progressiva.

BMJ case reports
2025

ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report.

Frontiers in pediatrics
2025

Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva.

Pharmaceutics
2025

Identifying global trends from case reports of fibrodysplasia ossificans progressiva: a scoping review.

Therapeutic advances in musculoskeletal disease
2025

Effects of Renal and Hepatic Impairment on the Pharmacokinetics of Zilurgisertib.

British journal of clinical pharmacology
2025

Acvr2b receptors transduce all BMP signaling in the zebrafish gastrula and restrict Fibrodysplasia Ossificans Progressiva ACVR1-R206H signaling in a dose-dependent manner.

bioRxiv : the preprint server for biology
2025

A rare cause of swelling and limited mobility in the back in a child: a case of fibrodysplasia ossificans progressiva during a flare-up period.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2025

Discovery and Characterization of Zilurgisertib, a Potent and Selective Inhibitor of Activin Receptor-like Kinase‑2 (ALK2) for the Treatment of Fibrodysplasia Ossificans Progressiva.

ACS medicinal chemistry letters
2025

Intermittent and Short-Term Empirical Ruxolitinib Regimen for Steroid-Refractory Flareups of Fibrodysplasia Ossificans Progressiva.

Pharmacology research &amp; perspectives
2025

Medical guidelines for fibrodysplasia ossificans progressiva.

JBMR plus
2026

Evaluation of clinical cardiac safety of zilurgisertib, an activin receptor-like kinase-2 (ALK2) inhibitor, in healthy participants.

Clinical pharmacology in drug development
2025

A Narrative Review of Phase II and III Clinical Trials for the Pharmacological Treatment of Fibrodysplasia Ossificans Progressiva (FOP): Efficacy, Safety, and Challenges in Treatment Strategies.

Drug design, development and therapy
2025

An inducible knock-in mouse model of fibrodysplasia ossificans progressiva shows spontaneous formation of heterotopic ossification.

JBMR plus
2025

Atypical Fibrodysplasia Ossificans Progressiva with G328E Variant and Digit Reduction Abnormalities: A Report of 2 Cases.

JBJS case connector
2025

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Clinical dysmorphology
2025

Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.

American journal of human genetics
2025

Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research.

Orphanet journal of rare diseases
2025

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
2025

Ectopic pseudojoints in fibrodysplasia ossificans progressiva.

JBMR plus
2025

Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva.

Methods in molecular biology (Clifton, N.J.)
2025

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Methods in molecular biology (Clifton, N.J.)
2025

Atypical Fibrodysplasia Ossificans Progressiva in a child: A case report.

International journal of surgery case reports
2025

Respiratory oscillometry in individuals with fibrodysplasia ossificans progressiva.

Orphanet journal of rare diseases
2025

All Restricted Spines are not Spondyloarthritis: Fibrodysplasia Ossificans Progressiva (FOP) in Monozygotic Twins presenting to Rheumatology Clinic.

Mediterranean journal of rheumatology
2025

PI3Kα inhibition blocks osteochondroprogenitor specification and the hyper-inflammatory response to prevent heterotopic ossification.

eLife
2025

A new BMP type 1 receptor kinase inhibitor for safe and efficient oral treatment to prevent genetically induced heterotopic ossification in mice.

Bone
2025

Effect of Itraconazole or Rifampin on Zilurgisertib Pharmacokinetics When Administered Orally in Healthy Participants.

Clinical pharmacology in drug development
2025

Understanding the clinical morbidity and mortality of fibrodysplasia ossificans progressiva: a systematic literature review.

Orphanet journal of rare diseases
2025

A cutaneous nodule revealing Münchmeyer's disease.

Oxford medical case reports
2025

Progressive Soft Tissue Swelling in a Pediatric Patient Leading to the Diagnosis of Fibrodysplasia Ossificans Progressiva: A Case Report.

Pediatric dermatology
2025

Combined rapamycin and mesenchymal stem/stromal cells derived from induced pluripotent stem cells-mediated delivery of ACVR2B-Fc fusion protein reduces heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.

JBMR plus
2025

Thoracic Deformity in Fibrodysplasia Ossificans Progressiva.

JBJS reviews
2025

Advancements in mechanisms and drug treatments for fibrodysplasia ossificans progressiva.

Journal of Zhejiang University. Science. B
2026

Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.

Journal of applied genetics
2025

Interplay between ALK2R206H mutant receptor and autophagy signaling regulates receptor stability and its chondrogenic functions.

Cell death discovery
2025

Hearing loss predictive model in fibrodysplasia ossificans progressiva from a national referral center: developing an hearing loss predictive model.

JBMR plus
2025

Insights Gained From an Ultrarare Case of Progressive Osseous Heteroplasia With Severe Complications.

Cureus
2025

Early Detection for Better Patient Outcome: A Case Report on Two Patients Presenting With Fibrodysplasia Ossificans Progressiva at Tikur Anbessa Specialized Hospital, Ethiopia.

Case reports in orthopedics
2025

Palovarotene in fibrodysplasia ossificans progressiva: review and perspective.

Expert opinion on pharmacotherapy
2025

Proceedings of the 2024 Santa Fe Bone Symposium: Update on the Management of Osteoporosis and Rare Bone Diseases.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
2025

Signaling Dynamics in Osteogenesis: Unraveling Therapeutic Targets for Bone Generation.

Current drug targets
2024

Fibrodysplasia ossificans progressiva: the stone woman.

ARP rheumatology
2025

Discoidin domain receptor 2 is an important modulator of BMP signaling during heterotopic bone formation.

Bone research
2025

Clinical and radiological insights into fibrodysplasia ossificans progressiva: A report on two cases.

Journal of clinical orthopaedics and trauma
2024

Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H).

Case reports in genetics
2025

Palovarotene (Sohonos), a synthetic retinoid for reducing new heterotopic ossification in fibrodysplasia ossificans progressiva: history, present, and future.

JBMR plus
2025

Pharmacokinetics of Zilurgisertib With and Without Food from Single and Multiple Ascending Dose Phase 1 Studies in Healthy Adults.

European journal of drug metabolism and pharmacokinetics
2025

BMP-9 mediates fibroproliferation in fibrodysplasia ossificans progressiva through TGF-β signaling.

EMBO molecular medicine
2025

Targeting to BMP9 to restrain flare-up of fibrodysplasia ossificans progressiva.

EMBO molecular medicine
2024

The role of miRNAs as biomarkers in heterotopic ossification.

EFORT open reviews
2024

Discovery of highly potent and ALK2/ALK1 selective kinase inhibitors using DNA-encoded chemistry technology.

Proceedings of the National Academy of Sciences of the United States of America
2025

Fibrodysplasia ossificans progressiva associated with osteochondromatosis: A case report.

Radiology case reports
2024

[18F]NaF PET/CT as a Marker for Fibrodysplasia Ossificans Progressiva: From Molecular Mechanisms to Clinical Applications in Bone Disorders.

Biomolecules
2024

Current and emerging treatment modalities for fibrodysplasia ossificans progressiva.

Expert opinion on pharmacotherapy
2024

Sensors in Bone: Technologies, Applications, and Future Directions.

Sensors (Basel, Switzerland)
2025

Comparison of PET/CT versus CT only in the assessment of new heterotopic ossification bone lesions in patients with fibrodysplasia ossificans progressiva.

Bone
2024

Performance of simplified methods for quantification of [18F]NaF uptake in fibrodysplasia ossificans progressiva.

Frontiers in nuclear medicine
2024

Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.

Orphanet journal of rare diseases
2025

Fibrodysplasia ossificans progressiva emerges from obscurity.

Trends in molecular medicine
2024

Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants.

Omics : a journal of integrative biology
2024

Fibrodysplasia ossificans progressiva complicated with post traumatic and infectious myositis ossificans in masseter: A case report.

Medicine
2024

Novel insights from human induced pluripotent stem cells on origins and roles of fibro/adipogenic progenitors as heterotopic ossification precursors.

Frontiers in cell and developmental biology
2025

Dual and opposing role of retinoic acid receptor signaling in mesenchymal stem cells for tendon ossification in mice.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society
2024

Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: a post hoc analysis of the randomized, double-blind, placebo-controlled LUMINA-1 trial.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2024

Molecular Developmental Biology of Fibrodysplasia Ossificans Progressiva: Measuring the Giant by Its Toe.

Biomolecules
2024

Primary cilia mediate skeletogenic BMP and Hedgehog signaling in heterotopic ossification.

Science translational medicine
2024

Fibrodysplasia Ossificans Progressiva: A Man Turned to Stone.

Cureus
2024

Research trends and hotspots of myositis ossificans: a bibliometric analysis from 1993 to 2022.

EFORT open reviews
2024

Animal models of tendon calcification: Past, present, and future.

Animal models and experimental medicine
2024

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.

BMC medical genomics
2024

An ALK2 inhibitor, BLU-782, prevents heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.

Science translational medicine
2024

The Effect of Therapeutic Approaches on Hallux Valgus Deformity.

Cureus
2024

Rare but Perils of Unaware - Fibrodysplasia Ossificans Progressiva.

Indian journal of pediatrics
2024

Fibrodysplasia ossificans progressiva: Two case reports.

Radiology case reports
2024

Long-term use of interleukin-1 inhibitors reduce flare activity in patients with fibrodysplasia ossificans progressiva.

Rheumatology (Oxford, England)
2024

Cell Senescence in Heterotopic Ossification.

Biomolecules
2024

Cellular and Molecular Mechanisms of Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva.

Biomedicines
2024

Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report.

Journal of medical case reports
2024

Actionable disease insights from bedside-to-bench investigation in fibrodysplasia ossificans progressiva.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2024

Interleukin 1 receptor antagonist as biomarker for disease flares in fibrodysplasia ossificans progressiva.

Bone
2024

Wnt pathway inhibition with the porcupine inhibitor LGK974 decreases trabecular bone but not fibrosis in a murine model with fibrotic bone.

JBMR plus
2024

Fibrodysplasia Ossificans Progressiva: A Case Report.

Cureus
2024

Immunologic Aspects in Fibrodysplasia Ossificans Progressiva.

Biomolecules
2024

Intersections of Fibrodysplasia Ossificans Progressiva and Traumatic Heterotopic Ossification.

Biomolecules
2024

Hedgehog Signaling Controls Chondrogenesis and Ectopic Bone Formation via the Yap-Ihh Axis.

Biomolecules
2024

Development of AAV-Mediated Gene Therapy Approaches to Treat Skeletal Diseases.

Human gene therapy
2024

Fibrodysplasia Ossificans Progressiva: A rare disease due to unawareness, case report and literature review.

International journal of surgery case reports
2024

iMSC-mediated delivery of ACVR2B-Fc fusion protein reduces heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.

Stem cell research &amp; therapy
2024

Tracheostomy for the pediatric patient with fibrodysplasia ossificans progressiva: a case report.

Surgical case reports
2024

Matrix metalloproteinase-9 deficiency confers resilience in fibrodysplasia ossificans progressiva in a man and mice.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2024

Role of the NF-kB signalling pathway in heterotopic ossification: biological and therapeutic significance.

Cell communication and signaling : CCS
2024

Sex as a Critical Variable in Basic and Pre-Clinical Studies of Fibrodysplasia Ossificans Progressiva.

Biomolecules
2024

The HIF-1α and mTOR Pathways Amplify Heterotopic Ossification.

Biomolecules
2024

Oxidative phosphorylation is a pivotal therapeutic target of fibrodysplasia ossificans progressiva.

Life science alliance
2024

The Activation of the Fibrodysplasia Ossificans Progressiva-Inducing ALK2-R206H Mutant Depends on the Distinct Homo-Oligomerization Patterns of ACVR2B and ACVR2A.

Cells
2023

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report.

Cureus
2024

How Activin A Became a Therapeutic Target in Fibrodysplasia Ossificans Progressiva.

Biomolecules
2024

A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo.

American journal of physiology. Gastrointestinal and liver physiology
2024

Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.

Orthopaedic surgery
2024

A fibrodysplasia ossificans progressiva patient with a rare missense mutation in ACVR1 detected on 18F-FDG PET/CT.

Joint bone spine
2023

Navigating the Complex Landscape of Fibrodysplasia Ossificans Progressiva: From Current Paradigms to Therapeutic Frontiers.

Genes
2023

Palovarotene Action Against Heterotopic Ossification Includes a Reduction of Local Participating Activin A-Expressing Cell Populations.

JBMR plus
2023

Disease aggravation following surgery in a rare patient suspected to Fibrodysplasia (Myositis) ossificans progressiva: a case report.

Journal of medical case reports
2023

Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva.

BMC medical research methodology
2023

Fibrodysplasia ossificans progressiva.

Clinical case reports
2024

Giant thymic cyst overclouding the diagnosis of fibrodysplasia ossificans progressiva: an inconvenient coincidence.

Rheumatology (Oxford, England)
2023

Frontal bone loss following coronal brow lift: A mimicker of head variant linear morphea.

JAAD case reports
2023

The Pharmacokinetic Profile of Palovarotene: An Open-Label Phase I Trial Investigating the Effect of Food and Potential for Drug-Drug Interaction in Healthy Participants.

European journal of drug metabolism and pharmacokinetics
2023

Head and neck manifestations of fibrodysplasia ossificans progressiva: Clinical and imaging findings in 2 cases.

Imaging science in dentistry
2023

Challenges in Diagnosing Fibrodysplasia Ossificans Progressiva: A Case Report.

JBJS case connector
2023

Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial.

Nature medicine
2023

AAV-Mediated Targeting of the Activin A-ACVR1R206H Signaling in Fibrodysplasia Ossificans Progressiva.

Biomolecules
2023

Characterization of Fibrodysplasia Ossificans Progessiva relevant Acvr1/Acvr2 Activin receptors in medaka (Oryzias latipes).

PloS one
2023

An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report.

Cureus
2024

Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader.

Indian journal of pediatrics
2024

Garetosmab in Fibrodysplasia Ossificans Progressiva: Clinical Pharmacology Results from the Phase 2 LUMINA-1 Trial.

Journal of clinical pharmacology
2023

Human iPSCs as Model Systems for BMP-Related Rare Diseases.

Cells
2023

Successful experience of tofacitinib treatment in patients with Fibrodysplasia Ossificans Progressiva.

Pediatric rheumatology online journal
2023

[Recommendations for the healthcare of patients with FOP].

Orthopadie (Heidelberg, Germany)
2023

The terminal period findings of late-diagnosed fibrodysplasia ossificans progressiva.

German medical science : GMS e-journal
2023

Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.

Current osteoporosis reports
2023

Novel Therapeutic Targets for Fibrodysplasia Ossificans Progressiva: Emerging Strategies and Future Directions.

Cureus
2023

Superior mesenteric artery syndrome in a patient with fibrodysplasia ossificans progressiva.

Bone reports
2023

Polypeptide Substrate Accessibility Hypothesis: Gain-of-Function R206H Mutation Allosterically Affects Activin Receptor-like Protein Kinase Activity.

Biomolecules
2023

Fibrodysplasia ossificans progressiva: when a double skeleton is present.

Clinical rheumatology
2023

[A PhD completed. The use of periodontal ligament fibroblasts in research on fibrodysplasia ossificans progressiva].

Nederlands tijdschrift voor tandheelkunde
2023

Synthetic CT Assessment of Lesions in Children With Rare Musculoskeletal Diseases.

Pediatrics
2023

Reduced GS Domain Serine/Threonine Requirements of Fibrodysplasia Ossificans Progressiva Mutant Type I BMP Receptor ACVR1 in the Zebrafish.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2023

Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva.

Stem cell research
2023

Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023

Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification.

Diagnostics (Basel, Switzerland)
2023

A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.

Nature communications
2023

Direct BMP signaling to chordoblasts is required for the initiation of segmented notochord sheath mineralization in zebrafish vertebral column development.

Frontiers in endocrinology
2023

Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1).

American journal of medical genetics. Part A
2023

Fibrodysplasia ossificans progressiva in Hong Kong-A case report series.

Frontiers in pediatrics
2023

Diagnostic Findings and Surgical Management of Three Dogs Affected by Osseous Metaplasia Secondary to a Salivary Mucocele.

Animals : an open access journal from MDPI
2023

The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva.

Orphanet journal of rare diseases
2023

Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of Mobility.

Clinical orthopaedics and related research
2023

The Efficacy of CT Temporal Subtraction Images for Fibrodysplasia Ossificans Progressiva.

Tomography (Ann Arbor, Mich.)
2023

A rare challenge: A patient with progressive fibrodysplasia ossificans and acute ischemic stroke treated with mechanical thrombectomy.

eNeurologicalSci
2023

Transcriptomic Differences Underlying the Activin-A Induced Large Osteoclast Formation in Both Healthy Control and Fibrodysplasia Ossificans Progressiva Osteoclasts.

International journal of molecular sciences
2022

Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings.

Journal of orthopaedic case reports
2023

Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.

BMC musculoskeletal disorders
2023

Automated, calibration-free quantification of cortical bone porosity and geometry in postmenopausal osteoporosis from ultrashort echo time MRI and deep learning.

Bone
2023

A follow-up report on the published paper Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva.

Orphanet journal of rare diseases
2023

Fibrodysplasia ossificans progressiva in a 3-year-old female patient.

Boletin medico del Hospital Infantil de Mexico
2023

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

AJNR. American journal of neuroradiology
2023

A Pharmacokinetic, Safety, and Tolerability Trial of Palovarotene in Healthy Japanese and Non-Japanese Participants.

European journal of drug metabolism and pharmacokinetics
2022

Knowledge and awareness about fibrodysplasia ossificans progressiva among dental students.

Journal of advanced pharmaceutical technology &amp; research
2023

Pediatric myositis ossificans circumscripta following traumatic hip dislocation: A case report.

Radiology case reports
2023

TGF-Beta Induces Activin A Production in Dermal Fibroblasts Derived from Patients with Fibrodysplasia Ossificans Progressiva.

International journal of molecular sciences
2023

MRI Quantification of Cortical Bone Porosity, Mineralization, and Morphologic Structure in Postmenopausal Osteoporosis.

Radiology
2023

Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.

Neuropathology : official journal of the Japanese Society of Neuropathology
2023

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
2023

Use of Enrofloxacin and Hydrotherapy in the Management of Fibrodysplasia Ossificans Progressiva (FOP) in a Savannah Cat.

Topics in companion animal medicine
2023

Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP).

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2024

Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

The Fibrodysplasia Ossificans Progressiva Physical Function Questionnaire (FOP-PFQ): A patient-reported, disease-specific measure.

Bone
2023

Bone morphogenetic protein signaling is a possible therapeutic target in gynecologic cancer.

Cancer science
2022

Diminished muscle integrity in patients with fibrodysplasia ossificans progressiva assessed with at-home electrical impedance myography.

Scientific reports
2022

SARS-CoV-2-specific humoral and cellular immune responses to BNT162b2 vaccine in Fibrodysplasia ossificans progressiva patients.

Frontiers in immunology
2022

Bioanalysis of INCB000928 in hemodialysate: prevention of nonspecific binding and validation of surrogate matrices.

Bioanalysis
2022

Shedding Light on Bone Morphogenetic Protein (BMP) Signaling Modifiers to Modulate Fibrodysplasia Ossificans Progressiva Severity.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2022

Proceedings of the 2022 Santa Fe Bone Symposium: Current Concepts in the Care of Patients with Osteoporosis and Metabolic Bone Diseases.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
2022

Suppression of heterotopic ossification in fibrodysplasia ossificans progressiva using AAV gene delivery.

Nature communications
2022

Fibrodysplasia ossificans progressiva: A rare disease with spinal deformity and severe hip dysfunction.

Frontiers in pediatrics
2022

Fibrodysplasia Ossificans Progressiva and Pregnancy: A Case Series and Review of the Literature.

Case reports in obstetrics and gynecology
2022

Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2022

The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs.

Orphanet journal of rare diseases
2022

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks.

Orphanet journal of rare diseases
2022

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes.

Case reports in genetics
2022

RARγ: The Bone of Contention for Endothelial Cells in Prostate Cancer Metastasis.

Cancer research
2022

The impact of fibrodysplasia ossificans progressiva (FOP) on patients and their family members: results from an international burden of illness survey.

Expert review of pharmacoeconomics &amp; outcomes research
2022

Severe pulmonary hypertension with fibrodysplasia ossificans progressiva.

Pediatrics international : official journal of the Japan Pediatric Society
2022

Dexmedetomidine sedation for a dental extraction in a patient with known difficult airway.

Anaesthesia reports
2022

Contemporary perspectives on heterotopic ossification.

JCI insight
2022

Discovery of Novel Pyrazolopyrimidines as Potent, Selective, and Orally Bioavailable Inhibitors of ALK2.

ACS medicinal chemistry letters
2022

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
2022

Ultrasonographic assessment of flare-ups in patients with fibrodysplasia ossificans progressiva.

Pediatrics international : official journal of the Japan Pediatric Society
2022

Retinoic Acid Receptor Activation Reduces Metastatic Prostate Cancer Bone Lesions by Blocking the Endothelial-to-Osteoblast Transition.

Cancer research
2022

Twists in the fibrodysplasia ossificans progressiva story challenge and expand our understanding of BMP biology.

The Journal of clinical investigation
2022

Long-term dental outcomes in patients with fibrodysplasia ossificans progressiva: a report of three cases of tooth extraction.

Quintessence international (Berlin, Germany : 1985)
2022

Protocol paper: a multi-center, double-blinded, randomized, 6-month, placebo-controlled study followed by 12-month open label extension to evaluate the safety and efficacy of Saracatinib in Fibrodysplasia Ossificans Progressiva (STOPFOP).

BMC musculoskeletal disorders
2022

Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2022

Recent progress in drug development for fibrodysplasia ossificans progressiva.

Molecular and cellular biochemistry
2022

Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1.

The Journal of clinical investigation
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Doença com base genética

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

É uma doença genética hereditária caracterizada pela formação progressiva de osso em tecidos conjuntivos fora do esqueleto, como músculos e ligamentos. Essa ossificação heterotópica provoca perda gradativa de movimentos e rigidez articular marcante.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:337
    Orphanet
  2. GARD:6445
    GARD (NIH)
  3. Q1410831
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Fibrodisplasia ossificante progressiva. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/fibrodisplasia-ossificante-progressiva

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Fibrodisplasia ossificante progressiva
Compêndio · Raras BR

Fibrodisplasia ossificante progressiva

ORPHA:337 · MONDO:0007606
Prevalência
<1 / 1 000 000
Herança
Autosomal dominant, Not applicable
CID-10
M61.1 · Miosite ossificante progressiva
CID-11
Ensaios
8 ativos
Medicamentos
4 registrados
Início
Childhood
Prevalência
0.05 (Worldwide)
MedGen
UMLS
C0016037
EuropePMC
Wikidata
Wikipedia
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Genética mendeliana
fonte: OMIM
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Moléculas estudadas na doença
fonte: OpenTargets
Rara