Teresa Quattrin, MD

In the final episode, “Coordinating Multidisciplinary Care in Achondroplasia,” the panelists explore how clinicians can ensure patients receive appropriate, coordinated care as their needs change throughout childhood and adolescence. The discussion recognizes that access to dedicated multidisciplinary achondroplasia programs varies widely. Large specialty centers may bring together genetics, endocrinology, orthopedics, neurosurgery, otolaryngology, anesthesia, social work, physical therapy, and other disciplines to review patients collectively and develop unified recommendations. The panel highlights the value of this coordinated model in reducing fragmented care and helping families receive consistent guidance.

Coordinating Multidisciplinary Care in Achondroplasia

At the same time, many children receive care in community settings where clinicians may encounter only a small number of patients with achondroplasia. The experts emphasize that high-quality care remains possible by using established clinical guidance, maintaining appropriate surveillance, and knowing when to seek input from specialized centers. The panel also discusses the growing role of virtual care and consultation in extending access to specialty expertise. Multidisciplinary centers can serve as resources for community pediatricians and subspecialists even when families cannot travel frequently to a major center.

The series concludes with optimism about the rapidly evolving achondroplasia landscape. As new treatments and research continue to emerge, the panel reiterates that the goal remains broader than height: supporting health, function, independence, and quality of life throughout the lifespan. Thank you for watching this HCPLive Peer Exchange series on achondroplasia. Please subscribe to our eNewsletter for information on upcoming video series.

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Effective achondroplasia care depends on timely coordination across specialties, whether patients are managed at a dedicated multidisciplinary center or in the community.

In this episode, “Supporting Health, Independence, and Community in Achondroplasia,” the panel considers what successful long-term management should ultimately achieve and how clinicians can support children and families beyond medical treatment alone. The discussion begins with unanswered questions surrounding the long-term effects of targeted therapies. Although treatment has evolved from primarily managing complications toward therapies that may modify aspects of the disease course, the panel emphasizes that success should ultimately be measured by health, function, independence, and quality of life rather than height alone.

Supporting Health, Independence, and Community in Achondroplasia

The conversation explores practical aspects of supporting children as they grow, including maintaining a healthy weight, encouraging safe physical activity, and fostering independence in activities of daily living. Families can begin encouraging age-appropriate independence during early childhood, recognizing that children with achondroplasia may approach tasks such as dressing and toileting differently while still learning to complete them independently. The panel also addresses the social and emotional experience of growing up visibly different from peers and the importance of communication with schools and psychosocial support when needed.

The experts then discuss how patient advocacy organizations can complement clinical care by providing education, community, practical resources, and opportunities to connect with others who share similar experiences. Organizations such as Little People of America, the Little Legs Big Heart Foundation, and the Chandler Project can help families navigate challenges at home, school, and in the broader community while connecting children with peers and adults with achondroplasia. While these resources may be introduced as early as the first clinical visit, the panel recognizes that families differ in when they are ready to engage. Advocacy and peer support can therefore remain valuable resources throughout the patient journey, helping children and families build confidence, community, and independence.

In the final episode, “Coordinating Multidisciplinary Care in Achondroplasia,” panelists will discuss how clinicians can ensure patients receive timely input from the appropriate specialties as their needs evolve, including when dedicated skeletal dysplasia centers are not locally available.

Long-term achondroplasia care extends beyond medical treatment to supporting independence, well-being, and connection throughout the patient journey.

This episode, titled “Monitoring Treatment Response and Adapting Care in Achondroplasia,” features panelists discussing how they follow children receiving growth-modulating therapy and determine whether management should change over time. The panel emphasizes that response should not necessarily be judged after a single year. Some children may demonstrate greater improvement during the second year of therapy, making longitudinal follow-up important before concluding that treatment has been ineffective. The experts describe regular visits that include achondroplasia-specific growth curves and measurements such as height, sitting height, arm span, body segment measurements, and weight.

Monitoring Treatment Response and Adapting Care in Achondroplasia

Maintaining open growth plates is also central to treatment response, and the panel discusses monitoring epiphyseal status as children approach skeletal maturity. Rather than immediately labeling children who show limited initial improvement as “non-responders,” the experts prefer to recognize that some may simply respond more slowly. The conversation then turns to orthopedic care. Existing surveillance for kyphosis, spinal disease, and lower-extremity abnormalities remains necessary regardless of pharmacologic treatment. In some cases, growth modulation may influence how long guided-growth hardware remains in place, requiring closer orthopedic follow-up.

The panel also discusses limb lengthening. Their clinical experience highlights potential complications, including pain, altered gait, changes in function, and significant financial and treatment burden. The availability of pharmacologic growth-modulating therapies now adds another consideration when families weigh whether to pursue these procedures.

In the next episode, “Supporting Long-Term Health, Independence, and Well-Being in Achondroplasia,” the panel will broaden the discussion beyond treatment monitoring. They will explore unanswered questions, healthy weight, daily independence, and the social and emotional challenges children may encounter as they grow.

Response to growth-modulating therapy may evolve over several years. Structured monitoring helps clinicians assess benefit, manage expectations, and adapt treatment and orthopedic care when needed.

In “Emerging FGFR3-Targeted Therapies,” our panel explores investigational approaches designed to inhibit the abnormal FGFR3 signaling that drives achondroplasia. The discussion begins with infigratinib, an orally bioavailable tyrosine kinase inhibitor being evaluated in children with achondroplasia. The panel describes its development through natural history and dose-finding studies before progression into phase 3 evaluation. Unlike CNP-pathway therapies, which counteract downstream effects of excessive FGFR3 signaling, infigratinib is designed to act more directly on the receptor pathway itself. The experts discuss annualized height velocity as a key clinical trial endpoint and consider what the emerging results may suggest about the future role of oral targeted therapy. Because the therapy affects multiple FGFR family members, the panel also notes the importance of monitoring potential off-target effects.

Emerging FGFR3-Targeted Therapies

A second investigational agent, dabogratinib, is also discussed. Designed to more selectively inhibit FGFR3, the therapy is being evaluated in both treatment-naive children and those previously exposed to growth-modulating therapy. The study incorporates body proportionality in addition to annualized growth velocity, reflecting increasing interest in endpoints that capture outcomes beyond height alone. The panel emphasizes that these therapies remain investigational and that their long-term roles will depend on continued evaluation of efficacy, proportionality, durability, and safety.

Our next episode, “Monitoring Treatment Response and Adapting Care in Achondroplasia,” returns to the practical management of children receiving growth-modulating therapy. Panelists will discuss how response is tracked over time, how they approach slower responders, and how treatment may intersect with orthopedic decision-making.

Investigational oral therapies are targeting the overactive FGFR3 pathway more directly, expanding the range of approaches under study for achondroplasia.

Teresa Quattrin, MD

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