Therapeutic approaches to osteopetrosis

The clinical presentation of osteopetrotic (OP) patients may vary considerably: some patients lead relatively normal lives and have a nearly regular life expectancy; these individuals usually bear the dominant form of the disease and require only symptomatic therapies. Other patients, mainly those affected by recessive OP, are very sick since early life and definitely require timely and potentially life-saving, though risky interventions. Overall, the molecular dissection of this rare condition and decades of experience in the cure and follow-up of OP patients has allowed defining guidelines for treatment. However, the occurrence of atypical presentations, the rarity of specific subgroups, and the lack of genetic classification of some patients may raise uncertainty on the treatment decision. Here we will retrace the steps that led to the identification of the only curative approach available so far for recessive OP and describe ongoing preclinical studies for the implementation of targeted alternative strategies