Fibrodysplasia ossificans progressiva

Common Name(s)

Fibrodysplasia ossificans progressiva, FOP, Myositis ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder that causes the development of bone where other muscle or other soft tissue is normally present. The tissues affected include muscle, tendons, ligaments, and other connective tissue. This bone formation is often painful and limits the range of motion in the affected area. The disorder is sometimes called “stone man syndrome” because bone growth over joints will severely limit movement, eventually imprisoning the body in bone.

While the first formation of extra bone may not occur until after age 10, a common symptom of children born with FOP is the presence of big toe deformities. The initial symptoms of FOP occur early in life and include swelling and inflammation of the shoulders and back, which eventually resolves but leaves behind new bone. Young children with FOP often do not crawl because of limited mobility in their joints. The symptoms of pain and loss of mobility become worse as the affected individuals ages, although the timeframe for new bone formation is different for each patient. By late stages of FOP, the skeleton becomes fused into one piece by the growth of new bone. Movement becomes impossible because joints are replaced by solid bone.

FOP is caused by a change (mutation) on a specific gene inherited from both parents. Because the disease is so rare, the symptoms may be misdiagnosed as more common diseases, such as myositis ossificans traumatic or other inflammatory diseases or movement disorders. Without proper diagnosis, affected individuals who undergo surgery are at risk of worsening their symptoms.

There is currently no known cures for FOP, and treatments focus on reducing the symptoms. Surgical removal of the excess bone often causes more bone formation, worsening the prognosis for the patient. Medications may be used to decrease inflammation and pain. If you are suffering from FOP, talk to your doctor about the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibrodysplasia ossificans progressiva" for support, advocacy or research.

International FOP Association

Fund research to find a cure for FOP while supporting individuals and their families through education, public awareness and advocacy.

Last Updated: 30 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibrodysplasia ossificans progressiva" for support, advocacy or research.

International FOP Association

Fund research to find a cure for FOP while supporting individuals and their families through education, public awareness and advocacy.

http://www.ifopa.org

Last Updated: 30 Apr 2014

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fibrodysplasia ossificans progressiva" returned 91 free, full-text research articles on human participants. First 3 results:

Modeling human somite development and fibrodysplasia ossificans progressiva with induced pluripotent stem cells.
 

Author(s): Taiki Nakajima, Mitsuaki Shibata, Megumi Nishio, Sanae Nagata, Cantas Alev, Hidetoshi Sakurai, Junya Toguchida, Makoto Ikeya

Journal:

 

Somites (SMs) comprise a transient stem cell population that gives rise to multiple cell types, including dermatome (D), myotome (MYO), sclerotome (SCL) and syndetome (SYN) cells. Although several groups have reported induction protocols for MYO and SCL from pluripotent stem cells, ...

Last Updated: 31 Dec 1969

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Activin-A enhances mTOR signaling to promote aberrant chondrogenesis in fibrodysplasia ossificans progressiva.
 

Author(s): Kyosuke Hino, Kazuhiko Horigome, Megumi Nishio, Shingo Komura, Sanae Nagata, Chengzhu Zhao, Yonghui Jin, Koichi Kawakami, Yasuhiro Yamada, Akira Ohta, Junya Toguchida, Makoto Ikeya

Journal: J. Clin. Invest.. 2017 Sep;127(9):3339-3352.

 

Fibrodysplasia ossificans progressiva (FOP) is a rare and intractable disease characterized by extraskeletal bone formation through endochondral ossification. Patients with FOP harbor point mutations in ACVR1, a type I receptor for BMPs. Although mutated ACVR1 (FOP-ACVR1) has been ...

Last Updated: 31 Dec 1969

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Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.
 

Author(s): Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire

Journal:

 

Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP prevalence was about one in every two million lives. The ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fibrodysplasia ossificans progressiva" returned 15 free, full-text review articles on human participants. First 3 results:

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.
 

Author(s): Serena Cappato, Francesca Giacopelli, Roberto Ravazzolo, Renata Bocciardi

Journal:

 

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition characterized by progressive extra-skeletal ossification leading to cumulative and severe disability. FOP has an extremely variable and episodic course and can be induced by trauma, infections, iatrogenic harms, ...

Last Updated: 31 Dec 1969

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Heterotopic bone induction via BMP signaling: Potential therapeutic targets for fibrodysplasia ossificans progressiva.
 

Author(s): Takenobu Katagiri, Sho Tsukamoto, Mai Kuratani

Journal: Bone. 2018 04;109():241-250.

 

More than 50years ago, Marshal M. Urist detected "heterotopic bone-inducing activity" in demineralized bone matrix. This unique activity was referred to as "bone morphogenetic protein (BMP)" because it was sensitive to trypsin digestion. Purification of the bone-inducing activity ...

Last Updated: 31 Dec 1969

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The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva.
 

Author(s): Dana M Alessi Wolken, Vincent Idone, Sarah J Hatsell, Paul B Yu, Aris N Economides

Journal: Bone. 2018 04;109():210-217.

 

Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that presents at birth with only minor patterning defects, but manifests its debilitating pathology early in life with episodic, yet progressive and cumulative, heterotopic ossification (HO) of ligaments, tendons, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 29 Oct 2018

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The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva (FOP)

 

Last Updated: 15 Aug 2017

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