Fibrodysplasia Ossificans Progressiva Overview
Learn About 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.
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.
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.
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.
Penn Orthopaedics University City - 8th Floor
Frederick Kaplan is an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Kaplan is rated as an Elite provider by MediFind in the treatment of Fibrodysplasia Ossificans Progressiva. His top areas of expertise are Fibrodysplasia Ossificans Progressiva, Progressive Osseous Heteroplasia, Compartment Syndrome, Brachydactyly Mononen Type, and Fasciotomy.
Mayo Clinic
Robert Pignolo is a primary care provider, practicing in Geriatrics and Internal Medicine in Rochester, Minnesota. Dr. Pignolo is rated as an Elite provider by MediFind in the treatment of Fibrodysplasia Ossificans Progressiva. His top areas of expertise are Fibrodysplasia Ossificans Progressiva, Progressive Osseous Heteroplasia, Albright's Hereditary Osteodystrophy, Pseudohypoparathyroidism, and Fasciotomy. Dr. Pignolo is currently accepting new patients.
Richard Keen practices in Stanmore, United Kingdom. Mr. Keen is rated as an Elite expert by MediFind in the treatment of Fibrodysplasia Ossificans Progressiva. His top areas of expertise are Fibrodysplasia Ossificans Progressiva, Hypophosphatemia, X-Linked Hypophosphatemia, and Rickets.
Summary: This Phase 2, Randomized, Double-Blind, Placebo-Controlled Study is intended to evaluate the Efficacy, Safety, and Tolerability and PK of INCB000928 administered to participants with a clinical diagnosis of fibrodysplasia ossificans progressiva (FOP).
Summary: The participants in this registry study will have fibrodysplasia ossificans progressiva (FOP). FOP is an ultra-rare, severely disabling disease characterized by new bone formation in areas of the body where bone is not normally present (heterotopic ossification (HO)). HO is often preceded by painful, recurrent episodes of soft tissue swelling (flare-ups). This registry study will take place in cou...
Published Date: July 15, 2022
Published By: National Institutes of Health