Australia takes the lead in dwarfism treatment: First-ever guidelines unveiled at ICG 2023

At the 2023 Annual Meeting of the International Congress of Genetics (ICG 2023) held in Melbourne, the first-ever Australian guidelines for the use of BioMarin’s Voxzogo in achondroplasia, the most common form of disproportionate short stature (or dwarfism), were unveiled. This development brings new hope to Australian children and their families affected by this rare disease.

The government listed BioMarin’s Voxzogo (vosoritide) on the Pharmaceutical Benefits Scheme (PBS) on May 1, 2023. Voxzogo made history as the first and only rare disease medicine approved for achondroplasia in Australia, marking a significant step forward in treating this condition.

Australia played a pivotal role in the global Voxzogo clinical research program, with the Melbourne trial site situated at the prestigious Murdoch Children’s Research Institute (MCRI) and Royal Children’s Hospital (RCH). Spearheaded by the esteemed Professor Ravi Savarirayan, the Melbourne site stood as the largest Voxzogo clinical trial location in the world, showcasing Australia’s commitment to advancing medical science and supporting patients in need.

However, this medical triumph also brought its unique set of challenges to the local clinical community. With Voxzogo being the first subsidised pharmacological treatment intervention available for achondroplasia, clinicians found themselves treading uncharted territory. The process involved accessing subsidised treatment through PBS authorisation forms, something many clinicians had never dealt with before. It was, in essence, a fresh start for the medical community, paving the way for innovative approaches to patient care.

To address this uncharted territory, the Australian Vosoritide Working Group, comprising the country’s leading medical experts, emerged as guiding lights. Their collective expertise culminated in the development of the Clinical management guidelines for the use of vosoritide in achondroplasia offering comprehensive service- and patient-based recommendations. These guidelines aim to provide a consistent and optimal approach to treatment for patients in this new and promising landscape.

“We wanted to ensure that every child receives the best care possible, and that requires a collaborative effort from medical professionals across the country,” said a spokesperson from the Australian Vosoritide Working Group. “These guidelines are just the beginning, and we’ll continue to refine them as we gain more experience and data with vosoritide.”

The approval of Voxzogo was based on the outcomes of a global Phase 3 study, where 121 children between the ages of 5 and 14.9 with achondroplasia participated in a randomized, double-blind, placebo-controlled trial. Astonishingly, at week 52, patients treated with Voxzogo experienced an impressive increase in Annualized Growth Velocity (AGV) of 1.40 cm/year, in stark contrast to the -0.17 cm/year AGV recorded for placebo-treated patients.

Following the successful Phase 3 study, 58 subjects who initially received Voxzogo were enrolled in an open-label extension, where the improvement in AGV was consistently maintained over time. As part of this continued effort to gather crucial data, 53 Australian children are actively participating in long-term follow-up trials to monitor any potential late effects or uncommon adverse events of vosoritide. Globally, over 1,755 patients have been estimated to have experienced the transformative effects of this treatment.

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