Learn About Fibrodysplasia Ossificans Progressiva

What is the definition of Fibrodysplasia Ossificans Progressiva?

Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that limits movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.

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What are the causes of Fibrodysplasia Ossificans Progressiva?

Variants (also known as mutations) in the ACVR1 gene cause fibrodysplasia ossificans progressiva. This gene provides instructions for making a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood.

How prevalent is Fibrodysplasia Ossificans Progressiva?

Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 1 million people worldwide. Several hundred cases have been reported.

Is Fibrodysplasia Ossificans Progressiva an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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What are the latest Fibrodysplasia Ossificans Progressiva Clinical Trials?
Phase 1 Study of Mesenchymal Stromal Cells, Umbilical Cord Lining Stem Cells (ULSC), in Patients With Polymyositis (PM) and Dermatomyositis (DM)

Summary: This study will investigate Umbilical Cord Lining Stem Cells (ULSC) as an investigational medicinal product and its use in patients with polymyositis (PM) or dermatomyositis (DM) to see if a single intravenous (IV) infusion of allogeneic umbilical cord lining stem cells (ULSC) safe, tolerable, and feasible to administer.

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Subcutaneous Injection of Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study

Summary: Ectopic soft tissue calcifications or ossifications can complicate the course of numerous diseases; most of them are rare or very rare. Even if the clinical, radiological and pathological presentation of ectopic calcifications and ossifications are different, the same hypotheses are discussed considering their hypothetical pathophysiology. Indeed, high calcium phosphate product, local cellular les...

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Published Date: July 15, 2022Published By: National Institutes of Health

What are the Latest Advances for Fibrodysplasia Ossificans Progressiva?
Tacrolimus in Patients With Interstitial Pneumonia Associated With Polymyositis or Dermatomyositis: Interim Report of Postmarketing Surveillance in Japan.
Replacement and Immunomodulatory Activities of 20% Subcutaneous Immunoglobulin Treatment: A Single-Center Retrospective Study in Autoimmune Myositis and CVID Patients.
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