Developing Treatments for Fibrodysplasia Ossificans Progressiva

This thesis aimed to build upon and expand the pathophysiological and clinical knowledge of FOP and to contribute to the translation of this knowledge into new treatment strategies for FOP. Development of treatments is a process that goes through a number of steps: first, it is necessary to evaluate current knowledge of the disease’s pathophysiological triggers, which could provide potential mechanisms to interfere with its progress; second, these possible targets will have to be tested in preclinical studies in vitro; third, when proven effective these treatments have to be evaluated for safety in healthy volunteers before ultimately being tested in patients. This thesis followed a similar pattern: first of all describing (chapters 2-3) and expanding (chapter 4) current knowledge of the disease, then describing knowledge on populating organs with fibroblasts not bearing the mutation from bone marrow transplants (chapter 5), and finally, describing additional preclinical testing of the potential drug saracatinib (chapter 6) and a clinical protocol that will be used to test it in a clinical trial (chapters 6-7).