Day 1: Professor Ravi – 3rd Annual Achondroplasia Research Conference recap
Day 1
The next speaker to take to the stage needed no introduction. Chandler welcomed our Australian Consortium Partner, Professor Ravi Savarirayan, to the stage!
Beside being a MCDS-Therapy consortium member, Professor Ravi is:
- The Group Leader of Skeletal Therapies at Murdoch Children’s Research Institute
- A Consultant Clinical Geneticist at Victorian Clinical Genetics Services
- A Professorial Fellow at the University of Melbourne
We may be biased, but Professor Ravi delivered a captivating presentation that gave us and the audience plenty of food for thought. He discussed the history of achondroplasia treatment to date around the world and gave us an insight into what Vosoritide can do for the community if approved based on the clinical trials he is currently running in Australia. Below are some of our key takeaways:
- There is currently no approved pharmacological therapy for achondroplasia in the US, Europe or Australia. Only growth hormones are currently used in Japan as a therapy for these patients.
- The achondroplasia gene, FGFR3, was found in 1994.
- It’s taken the community 25 years to develop a promising therapy for achondroplasia. This therapy is called Vosoritide and is being developed by BioMarin. Vosoritide adds the hormone called CNP (c-type natriuretic peptide) into the growth plate of achondroplasia patients. This has the effect of blocking the damaging FGFR3 pathway and promotes bone growth. The goal of Vosoritide is to improve the health, function and quality of life of those living with achondroplasia, not to make them taller.
- Vosoritide received EMA Recommendation for Approval on 25th June. The recommendation should be approved and signed off for use this August 2021.
- In France, Vosoritide was granted Temporary Emergency Use. This means that French achondroplasia patients can now access Vosoritide without having to wait for approval from a regulatory body.
- Clinical trials are not only game-changing, but life-saving for the patients and communities they help.
Achondroplasia patients often live with shorter hand and feet bones, which drastically reduce their reach and mobility. The centre of an achondroplasia patient’s face is also compressed. This can lead to sleep apnoea and dental issues. Vosoritide has been shown to increase the length of a patient’s hand and feet bones, while also potentially increasing the middle of the face to eliminate sleep apnoea and dental issues.
Professor Ravi sees these findings as extremely positive. He and his team are working around the clock to improve the quality of life for achondroplasia patients, especially those who he sees at his achondroplasia clinic in Australia. Professor Ravi simply wants to help achondroplasia patients live healthier lives, avoid surgery and have more therapy options to consider. He encouraged patient groups to work together for rare disease change by running natural history studies, joining clinical care networks and starting patient registries.
