Fibrodysplasia ossificans progressiva is a rare and life-threatening genetic disease caused by gain-of-function mutations in the ALK2 gene, which encodes activin receptor-like kinase 2. Blueprint Medicines Corp. has elucidated the discovery of their ALK2 inhibitor BLU-782, which is now in phase II studies at Ipsen for the treatment of FOP. Source: Bio World
Most of the time, Whitney Weldon doesn’t think about her second skeleton. She was 9 the first time it really flared up. Bridges of bone grew from nowhere to freeze her right arm at a 120-degree angle, an excruciating experience that felt “like your bones are trying to come out of your skin,” she said. […]
Action The U.S. Food and Drug Administration (FDA) has approved Sohonos (palovarotene) capsules for reduction in the volume of new heterotopic ossification (extra-skeletal bone formation) in adults and children aged 8 years and older for females, and 10 years and older for males with fibrodysplasia ossificans progressiva. Sohonos is the first drug approved for patients with fibrodysplasia […]
A multisite, international phase 2 trial evaluating the investigational drug garetosmab has shown that it reduced soft-tissue flare-ups significantly and prevented new areas of abnormal bone formation in patients with fibrodysplasia ossificans progressiva (FOP). Kathryn Dahir, MD, professor of Medicine in the Division of Endocrinology and Diabetes, served as the principal investigator at Vanderbilt University […]
BLU-782 is effective in preventing heterotopic ossification after fibular osteotomy. Credit: Science Translational Medicine (2024). DOI: 10.1126/scitranslmed.abp8334 Several teams of medical researchers are currently testing new therapies for slowing or stopping the excess or runaway bone growth associated with fibrodysplasia ossificans progressive (FOP)—a rare bone disease. The team behind one such effort, with members from Blueprint Medicines […]
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease driven by gain-of-function variants in activin receptor-like kinase 2 (ALK2), the most common variant being ALK2R206H . In FOP, ALK2 variants display increased and dysregulated signaling through the bone morphogenetic protein (BMP) pathway resulting in progressive and permanent replacement of skeletal muscle and connective tissues with […]
Rare diseases often get the cold shoulder from drug developers, and fibrodysplasia ossificans progressiva (FOP), an infamous genetic condition that makes bone sprout where it shouldn’t, is one of the rarest. It can inflict terrible pain and disability and is ultimately fatal, but only affects some 8000 people around the world. Yet at least 13 […]
This moving documentary focuses on a bubbly seven year old girl called Luciana who suffers from Fibrodysplasia Ossificans Progressiva or FOP. This rare degenerative disease triggers her muscles and tendons to turn into bone, immobilizing her body. The film follows Luciana and her mother as they confront the reality of the condition worsening and we […]
Introduction Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disease with an estimated prevalence of 1:1.2–1.5 million [1]. It is among the most catastrophic forms of heterotopic ossification (HO) [2] because of the progressive, irreversible accumulation of heterotopic bone and subsequent loss of mobility and independence. FOP is caused by activating mutations (mostly, the highly […]
Introduction Heterotopic ossification (HO) is a disorder characterized by ectopic bone formation at extraskeletal sites, including skeletal muscle and connective tissues. Trauma-induced HO develops as a common post-operative complication after orthopedic surgeries (e.g., hip arthroplasty), blast injuries, deep burns and nervous system injuries (Hwang et al., 2022). In addition to trauma- induced HO, fibrodysplasia ossificans […]
