Fibrodysplasia Ossificans ProgressivaSymptoms, Doctors, Treatments, Advances & More
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.
Ballad Health Medical Associates Associated Orthopedics
Originally from Big Bear, a small ski resort town in Southern California, Todd Horton, MD, moved to the Appalachian Highlands after retiring from the U.S. Navy in Portsmouth, Virginia. He was drawn to the region for its scenic rural charm, convenient access to amenities and the warmth of its small-town feel. Dr. Horton specializes in upper extremity and hand surgery with a focus on restoring function through precise mechanical repair. He enjoys helping patients recover from injuries and regain the strength and confidence to return to their everyday lives. In his free time, Dr. Horton enjoys precision and tactical shooting, motorsports and taking part in local organizations including VictorySports MotoCross, the South East Trail Riders Association and regional rodeo and gun clubs. Dr. Horton is rated as a Distinguished provider by MediFind in the treatment of Fibrodysplasia Ossificans Progressiva. His top areas of expertise are Progressive Osseous Heteroplasia, Fibrodysplasia Ossificans Progressiva, Osteoarthritis, and Carpal Tunnel Syndrome.
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-Rochester
Robert Pignolo is a primary care provider, practicing in Geriatrics in Virginia Beach, Virginia. 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.
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...
Summary: This is an observational pre-post study to observe if the off label use of anti-IL1 therapies, such as anakinra or canakinumab, can block ACVR1-induced flare activity and heterotopic ossification in FOP. It will also generate key tools and preliminary data that are needed to design a future Phase II study. This study specifically focuses on patients with severe FOP who are being considered by thei...
Published Date: July 15, 2022
Published By: National Institutes of Health