#415: Achondroplasia Treatment Advances with Dr. Ravi Savarirayan

Please note this episode is only available on our website, DNAToday.com under Episode 415, and access is limited to those in the United States. 

In just a few years, achondroplasia treatment has expanded from no approved precision medicines to multiple approaches targeting the condition’s underlying biology.

In this episode, we continue our conversation with Dr. Ravi Savarirayan, a global leader in skeletal dysplasia care and a lead investigator across multiple achondroplasia clinical development programs. Dr. Savarirayan previously joined us on Episode 401, where we explored the first approved precision treatment for achondroplasia and international guidance for its use.

This time, we take a broader look at the rapidly evolving achondroplasia treatment landscape, including how different therapeutic approaches target FGFR3 signaling, how researchers interpret clinical trial outcomes, and what results from the Phase 3 PROPEL 3 study of investigational infigratinib could mean for children and families.

We also discuss why treatments cannot be reliably compared using results from separate clinical trials, the importance of studying outcomes beyond growth, and the questions that remain about long-term safety, functional benefits, treatment selection, and switching therapies.

Thank you to BridgeBio for sponsoring this episode.

Episode Discussion Topics

• How the achondroplasia treatment landscape has evolved in the last seven years
• How achondroplasia affects more than height
• How current and investigational therapies target FGFR3 signaling in different ways
• What annualized growth velocity, height Z-scores, and body proportionality reveal in clinical trials
• Key findings from the Phase 3 PROPEL 3 study of investigational infigratinib
• What researchers can and cannot yet predict about final adult height based on current data
• Why body proportionality may be an important clinical and functional outcome
• How researchers are evaluating potential effects on mobility, reach, independence, and daily activities
• The long-term safety questions that remain when treatment begins in childhood
• Why results from separate achondroplasia trials should not be compared directly
• How families and healthcare providers can weigh treatment benefits, risks, administration, and personal goals
• What is being studied in hypochondroplasia and other conditions involving overactive FGFR3 signaling

Our Guest: Dr. Ravi Savarirayan

Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA). 

 

Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries. His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow.

Resources

• BridgeBio Achondroplasia Program
  Learn more about achondroplasia, FGFR3 biology, and BridgeBio’s clinical development program evaluating infigratinib.
• BridgeBio Achondroplasia Clinical Trials
  Information about the PROPEL clinical trials for infigratinib. 
• “Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia”
  The article that Dr. Ravi mentioned in the episode that was published June 28, 2026 in The New England Journal of Medicine. 
• Little People of America
  A nonprofit organization offering community, education, advocacy, events, and resources for people with dwarfism and their families.

Relevant DNA Today Podcast Episodes Episode 401: The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan

Dr. Savarirayan first appearance on the show where he explains how the first approved precision treatment for achondroplasia works and discusses international consensus recommendations for counseling families, initiating treatment, monitoring outcomes, and considering when treatment may be discontinued.

Episode 386: Achondroplasia Beyond Height: Managing Lifelong Medical Needs

Dr. Ricki Carroll discusses the medical complications associated with achondroplasia, the importance of coordinated multidisciplinary care, and why lifelong management must address much more than linear growth.

Episode 359: Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains

Dr. Janet Legare reviews the genetics, diagnosis, clinical features, medical management, and family counseling considerations associated with achondroplasia.

Episode 301: Dwarfism with Colleen Gioffreda

Colleen Gioffreda shares her experience living with achondroplasia, raising children with achondroplasia, navigating healthcare, building community, and challenging misconceptions about dwarfism.

Episode 192: Osteogenesis Imperfecta with The Middle’s Atticus Shaffer

Actor Atticus Shaffer discusses living with osteogenesis imperfecta, growing up in the entertainment industry, misconceptions about genetic conditions and short stature, and what he wants healthcare professionals to understand.

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