Eric Crombez, MD, Chief Medical Officer of Ultragenyx, describes osteogenesis imperfecta.
Transcription:
I’m Eric Crombez. I’m Chief Medical Officer at Ultragenyx. I’m a biochemical geneticist by training, so I do have experience during my time at UCLA treating patients with Osteogenesis Imperfecta. It’s really great to be part of the team bringing this new important treatment forward.
Ultragenyx was founded and really continues to be focused on developing new treatments for rare genetic disorders. Our philosophy is really to be able to bring forward the right type of treatment. That really began with our development of enzyme replacement therapy for MPS, one of the lysosomal storage disorders.
We do have treatments, including small molecules, messenger RNA, gene therapy, ASOs for Angelman. Really gives us a diverse platform that allows us really to focus on these diseases that remain with high unmet medical need.
Osteogenesis Imperfecta is a rare genetic bone disease. I think some people may have heard it referred to as brittle bone disease. Obviously, that’s a very descriptive way to talk about disease because these patients have genetic defects in collagen. You’ll hear us talk about different types of Osteogenesis Imperfecta, and that’s really based on which type of collagen from which type of genetic mutation.
But really, for all of these patients, the resulting effect is that it’s very easy for them to break bones. That includes long bones in the arms and legs, smaller bones from fingers, including the face, and really, the entirety of the skeletal system, including vertebrae.
We’re looking at roughly 60,000 patients in the developed world affected by this disease that affects collagen. There can be some eye findings that will be supportive of a clinical suspicion based on fractures. Some patients, depending on what type of Osteogenesis Imperfecta you have, can have hearing problems. But again, really what this comes down to is these fractures, and again, importantly, these fractures with very, very minimal activity.
For more Information about osteogenesis imperfecta and other rare musculoskeletal diseases, visit https://checkrare.com/diseases/musculoskeletal-diseases/