Unlocking the mystery
FOP or fibrodysplasia ossificans progressiva (fibro-dis-play-sha os-sih-fih-cans pro-gress-ev-a) means "soft connective tissue that progressively turns to bone." The earliest documented cases date back to the 17th and 18th centuries. Following the discovery of the FOP gene in 2006, research efforts towards treatments and a cure have accelerated. The discovery of the FOP gene provides a highly specific target for future drug development that holds promise for altering not just the symptoms of the disease but the disease itself. It also allowed for the creation of animal models that can express the mutant gene, further enabling research and drug development.
- French physician Guy Patin met with a patient who had FOP and mentioned the encounter in his writings
- British physician John Freke described at length an adolescent whose diagnosis included swellings throughout his back
- The disease became known as myositis ossificans progressiva, which means "muscle turns progressively to bone"
- The name was officially modified to fibrodysplasia ossificans progressiva (FOP) by the late Dr. Victor McKusick of Johns Hopkins University School of Medicine, who is considered the father of medical genetics. The new name better reflects that other soft (or fibrous) tissues in addition to muscle (for example tendons and ligaments) are replaced by bone.
- FOP Collaborative Research Project established at the University of Pennsylvania School of Medicine by Drs. Frederick Kaplan and Michael Zasloff
- 1st FOP Natural History Study conducted by Drs. Kaplan and Zasloff
- Dr. Eileen Shore joins the University of Pennsylvania FOP research group
- FOP Molecular Biology Laboratory established at the University of Pennsylvania
- Natural History of Heterotopic Ossification in Patients with FOP, a Study of 44 Patients published by Drs. Kaplan and Zasloff
- Dr. Kaplan awarded Johnson & Johnson Orthopaedics Research Grant for “Molecular Pathogenesis of Heterotopic Ossifications in FOP and in a Transgenic Animal Model”
- National Institutes of Health (NIH) Research Grant provides $200,000 annually for 3 years for FOP research
- Dr. Kaplan awarded the Isaac and Rose Nassau Professorship of Orthopaedic Molecular Medicine at the University of Pennsylvania School of Medicine, established by Diane Weiss in memory of her parents
- NIH Research Grant renewed for 4 years
- FOP Research Lab collaborates with scientists from University of California-Berkeley, Oxford University and Association Francaise Contre Les Myopathies
- Human Genome Project completed
- Phase I Clinical Trial for safety & efficacy of Squalamine, sponsored by Magainin Pharmaceuticals. Protocol was complex and no patients enrolled
- Dr David Glaser joins the University of Pennsylvania FOP Research Group
- After 15 years of painstaking research, the FOP research team, led by the University of Pennsylvania School of Medicine, along with their international collaborators, pinpointed a single gene mutation -- one letter out of six billion in the human genome -- that causes the runaway bone growth of FOP. Learn more about this groundbreaking discovery.
- Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic FOP published in Nature Genetics
- Dr. Kaplan elected to the Institute of Medicine
- Survey of neurological symptoms in FOP conducted by Dr. Joseph Kitterman
- University of Pennsylvania FOP Natural History Survey conducted to understand the natural progression of FOP
- Neurological Symptoms in Individuals with FOP by Dr. Joseph Kitterman and others published in the Journal of Neurology
- FOP research is international with 25 venues studying FOP. Primary work is located at the University of Pennsylvania Center for Research & Related Disorders in FOP.
- University of Pennsylvania conducts an international FOP Flare-Up Survey
- Clementia Pharmaceuticals, Inc. begins a Phase 2 clinical trial of palovarotene, an experimental RAR gamma agonist, in adults with FOP
- Clementia Pharmaceuticals, Inc. Phase 2 clinical trial of palovarotene in adults is completed and enrollment of children ages 6 to 14 years begins
- The International Clinical Council on FOP is formed
- Dr. Robert Pignolo begins seeing FOP patients at the Mayo Clinic
- Kyoto University researchers begin the world’s first clinical trial of a drug identified using iPS cells for those living with FOP in Japan
- Two pharmaceutical companies have drugs that are registered for worldwide FOP clinical trials - Clementia's MOVE trial and Regneron's LUMINA-1 trial
- Clementia's MOVE trial enrolls its first patient
- Regeneron's LUMINA-1 trial enrolls its first patient
Read this special memoir of the IFOPA's founding, "My Journey," by Founder and President Emeritus Jeannie Peeper.