Patients with the rare genetic condition, osteopetrosis, are being offered hope following a breakthrough in the search for a therapy, it was announced yesterday.
Delegates at the ECTS 2017, the 44th European Calcified Tissue Society Congress, in Salzburg, Austria, heard that there has been a development to treat type II autosomal dominant osteopetrosis (ADO2), which is also known as Albers-Schönberg disease.
ADO2 is a bone disease that skeletal areas and leads to multiple fractures, osteomyelitis, haematological deficiency and sensory impairments. There is no treatment for the condition, only palliative care.
A research team at the University of L’Aquila, Italy, designed genetic materials that recognised and silenced mutation of the chloride channel 7 gene, which is the cause of AD02.
The team was able to silence the RNA by using siRNAs, a form of RNA molecule able to prevent the production of specific proteins.
Professor Anna Teti, of the University of L’Aquila, said: “Having designed and patented the siRNAs, we performed a systematic study on ADO2 mice to obtain evidence of the siRNAs’ effectiveness, accuracy and safety.
“We used pilot studies to set the best siRNA dosage, which proved to be 4mg/Kg, three times a week, by infusion, and microCT analysis showed that in pre-pubertal mice there were improvements in two weeks and bone restoration in four weeks, and in adult mice there were improvements in four weeks and full bone restoration in twelve weeks.
"We found no evidence of adverse effects in terms of organ damage and also found benefits to the vital body organs.
"We are at very exciting point. We know the therapy works in the laboratory and we are now ready to proceed to phase I/II clinical trials, subject to regulatory toxicity studies still to be done in other animal models."
Towards preclinical development of siRNA-based therapy of CLCN7-dependent autosomal dominant osteopetrosis type2 (ADO2) was presented to ECTS 2017 by Antonio Maurizi of the Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy.
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