Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

被引：19

作者：

de Ruiter, Ruben D. ^{[1
]}

Smilde, Bernard J. ^{[1
]}

Pals, Gerard ^{[2
]}

Bravenboer, Nathalie ^{[3
]}

Knaus, Petra ^{[4
]}

Schoenmaker, Ton ^{[5
,6
]}

Botman, Esmee ^{[1
]}

Sanchez-Duffhues, Gonzalo ^{[7
]}

Pacifici, Maurizio ^{[8
]}

Pignolo, Robert J. ^{[9
]}

Shore, Eileen M. ^{[10
,11
]}

van Egmond, Marjolein ^{[12
]}

Van Oosterwyck, Hans ^{[13
,14
]}

Kaplan, Frederick S. ^{[15
]}

Hsiao, Edward C. ^{[16
,17
]}

Yu, Paul B. ^{[18
]}

Bocciardi, Renata ^{[19
]}

De Cunto, Carmen Laura ^{[20
]}

Delai, Patricia Longo Ribeiro ^{[21
]}

de Vries, Teun J. ^{[5
,6
]}

Hilderbrandt, Susanne ^{[4
,22
]}

Jaspers, Richard T. ^{[23
]}

Keen, Richard ^{[24
]}

Koolwijk, Peter ^{[25
]}

Morhart, Rolf ^{[26
]}

Netelenbos, Jan C. ^{[1
]}

Rustemeyer, Thomas ^{[27
]}

Scott, Christiaan ^{[28
]}

Stockklausner, Clemens ^{[23
]}

Ten Dijke, Peter ^{[7
]}

Triffit, James ^{[29
]}

Ventura, Francesc ^{[30
]}

Ravazzolo, Roberto ^{[19
]}

Micha, Dimitra ^{[2
]}

Eekhoff, Elisabeth M. W. ^{[1
]}

机构：

[1] Vrije Univ Amsterdam, Amsterdam Univ Med Ctr Amsterdam UMC, Dept Internal Med, Sect Endocrinol,Amsterdam Movement Sci, Amsterdam, Netherlands

[2] Vrije Univ Amsterdam, Amsterdam Univ Med Ctr Amsterdam UMC, Dept Clin Genet & Bone Histomorphol, Amsterdam, Netherlands

[3] Vrije Univ Amsterdam, Amsterdam Univ Med Ctr Amsterdam UMC, Dept Clin Chem, Amsterdam Movement Sci, Amsterdam, Netherlands

[4] Free Univ Berlin, Inst Chem & Biochem, Berlin, Germany

[5] Univ Amsterdam, Acad Ctr Dent Amsterdam ACTA, Dept Periodontol, Amsterdam, Netherlands

[6] Vrije Univ, Amsterdam, Netherlands

[7] Leiden Univ Med Ctr, Dept Cell & Chem Biol, Leiden, Netherlands

[8] Childrens Hosp Philadelphia, Abramson Res Ctr, Div Orthopaed Surg, Translat Res Program Pediat Orthopaed, Philadelphia, PA 19104 USA

[9] Mayo Clin, Dept Med, Rochester, MN USA

[10] Univ Penn, Perelman Sch Med, Dept Orthopaed Surg & Genet, Philadelphia, PA 19104 USA

[11] Univ Penn, Perelman Sch Med, Ctr Res FOP & Related Disorders, Philadelphia, PA 19104 USA

[12] Vrije Univ Amsterdam, Amsterdam Univ Med Ctr Amsterdam UMC, Canc Ctr Amsterdam, Dept Mol Cell Biol & Immunol, Amsterdam, Netherlands

[13] Katholieke Univ KU Leuven, Dept Mech Engn, Div Biomech, Leuven, Belgium

[14] Katholieke Univ KU Leuven, Prometheus Div Skeletal Tissue Engn, Leuven, Belgium

[15] Univ Penn, Perelman Sch Med, Dept Orthopaed Surg & Med, Ctr Res FOP & Related Disorders, Philadelphia, PA 19104 USA

[16] Univ Calif San Francisco, Dept Endocrinol & Metab, San Francisco, CA 94143 USA

[17] Univ Calif San Francisco, Dept Med, Inst Human Genet, San Francisco, CA 94143 USA

[18] Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Cardiovasc Med, Boston, MA 02115 USA

[19] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Med Genet Unit, IRCCS Ist Giannina Gaslini, Genoa, Italy

[20] Hosp Italiano Buenos Aires, Dept Pediat, Rheumatol Sect, Buenos Aires, DF, Argentina

[21] Hosp Israelite Albert Einstein, Teaching & Res Inst, Sao Paulo, Brazil

[22] Charite Med Univ Berlin, Berlin Brandenburg Ctr Regenerat Therapies, Berlin, Germany

[23] Vrije Univ Amsterdam, Fac Behav & Movement Sci, Lab Myol, Amsterdam Movement Sci, Amsterdam, Netherlands

[24] Royal Natl Orthopaed Hosp, Ctr Metab Bone Dis, Stanmore, Middx, England

[25] Vrije Univ Amsterdam, Amsterdam Univ Med Ctr Amsterdam UMC, Dept Physiol, Amsterdam, Netherlands

[26] Garmisch Partenkichen Med Ctr, Dept Pediat, Garmisch Partenkirchen, Germany

[27] Vrije Univ Amsterdam, Amsterdam Univ Med Ctr AmsterdamUMC, Dept Dermatol, Amsterdam, Netherlands

[28] Univ Cape Town, Red Cross War Mem Childrens Hosp, Dept Paediat & Child Heath, Div Paediat Rheumatol, Cape Town, South Africa

[29] Univ Oxford, Botnar Res Ctr, Oxford, England

[30] Univ Barcelona, Fac Med & Ciencias Salud, Dept Ciencias Fisiol, Barcelona, Spain

来源：

FRONTIERS IN ENDOCRINOLOGY | 2021年 / 12卷

关键词：

fibrodysplasia ossificans progessiva (FOP); trials; therapy; disease models; inflammation; angiogenesis; HETEROTOPIC OSSIFICATION; I RECEPTOR; OSTEOGENIC DIFFERENTIATION; PROGENITOR CELLS; STEM-CELLS; MODEL; BONE; FOP; INHIBITION; MUTATION;

D O I：

10.3389/fendo.2021.732728

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics.

引用

页数：8

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