Multiple Hereditary Exostoses (MHE) must be treated thoroughly to prevent problems from occurring and to allow a patient with MHE to live a full and painless life. This means for example that the elbow of MHE patients should not be permitted to dislocate. It also means if an osteochondroma is pressing on a nerve and causing severe pain this should be treated. If there is a limb that is becoming crooked it can be straightened. If there is a tumor injuring the spine, hip and/or ankle, it can be removed and the joints normalized. All these issues and more need to be addressed in the MHE patient.
The patient as a whole needs to be treated, listened to and managed. There is no reason for an individual with MHE to suffer from chronic nerve and/or joint pain. Since MHE is a single gene disorder affecting the biosynthesis of a specific molecule, heparin sulphate (HS), medical treatment should be possible. HS impacts many signaling pathways in bone and cartilage including FGF, Wnts, Ihh, BMP, TGFβ, and SH2. Each of these pathways are possible targets for drug development. Since BMP signaling is critical for cartilage and bone formation, it may be the ideal therapeutic target. Palovarotene (PVO) is a retinoic acid receptor γ (RARγ) selective agonist. PVO has been identified as an effective treatment for MHE and we are performing a randomized trial to prove this..