Dear Colleagues,

Osteogenesis Imperfecta (OI) is a group of rare inherited skeletal disorders with a wide spectrum of phenotypes characterized primarily by bone fragility. Bone mineral density may be reduced in OI, but the key mechanism of bone fragility is reduced bone quality due to defects in bone matrix and mineralization. Initially, four types of disease caused by mutations in collagen type I genes, ranging from mild to lethal, were known. The continuous discovery of new mutations in non-collagen genes has resulted in a genotype-based classification system including more than 20 OI types. Despite tremendous progress in understanding the pathogenesis of OI, this has not been accompanied by progress in the treatment, which requires a multidisciplinary approach involving a pediatrician, surgeon, orthopedist, and physiotherapist. The main drugs used in the treatment of children and adults with OI are antiresorptive bisphosphonates. A new antiresorptive drug such as denosumab and bone anabolic agents such as teriparatide and inhibitors of sclerostin or TGF-β are under investigation for the treatment of OI. The main disadvantages of these therapies are relatively poor efficacy, no effect in some patients, or cytotoxic side effects. New directions of therapy with the use of chemical chaperone (4-phenylbutyric acid, 4-PBA) or natural products of plant origin (rosemary extract), aimed at ER stress, are promising.

In this Special Issue, original research and review articles describing the experience of the effectiveness of treatment with the use of currently tested drugs and the development of new therapeutic approaches are highly welcome.

Dr. Anna Galicka
Dr. Katarzyna Gawron
Guest Editors

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• osteogenesis imperfecta (OI);
• antiresorptive therapy (bisphosphonates, denosumab);
• bone anabolic agents (teriparatide and inhibitors of sclerostin and TGF-β);
• inductors of autophagy (4-PBA, natural products);
• new approaches for OI treatment