Andrew Dauber, MD, MMsc, Chief of Endocrinology at Children’s National, discusses the efficacy of vosoritide to treat persons with hypochondroplasia.

Hypochondroplasia is a rare skeletal disease characterized by very short stature, similar to achondroplasia, but with milder features. People with hypochondroplasia usually have very short stature, large head, accentuated lordosis, short arms and legs, and broad, short hands and feet. Other features include a limited range of motion in the elbows, lordosis, and bowed legs. Uncommon symptoms may include learning difficulties and convulsions. Hypochondroplasia is often caused by genetic changes in the FGFR3 gene.

Vosoritide is a C-type natriuretic peptide analogue being investigated for the treatment of hypochondroplasia. It is currently approved for the treatment of achondroplasia.

In the phase 3, multicenter CANOPY-HCH-3 (NCT06455059 (https://clinicaltrials.gov/ct2/show/NCT06455059) ) clinical trial, children with hypochondroplasia who were 3 to less than 18 years of age were randomly assigned to receive once-daily subcutaneous injections of vosoritide or placebo for 52 weeks per weight-band dosing regimen. 

A total of 81 participants were randomly assigned to receive vosoritide or placebo. At week 52, the least squares mean (LSM) change from baseline in annualized growth velocity was 1.95 cm/year with vosoritide versus −0.39 cm/year with placebo. Dr. Dauber also explains that patients in the vosoritide group also showed an increase in arm span of more than a centimeter compared to the placebo group.

87.8% of participants in the vosoritide group and 72.5% of the placebo group experienced at least one adverse event. There were no reports of grade 3 or higher adverse events, adverse events leading to treatment discontinuation, or deaths.

For more information, visit The New England Journal of Medicine Evidence (https://evidence.nejm.org/doi/full/10.1056/EVIDoa2600257) .

To learn more about hypochondroplasia and other rare musculoskeletal conditions, visit https://checkrare.com/diseases/musculoskeletal-diseases/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

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Researchers at Vanderbilt and the Undiagnosed Diseases Network have published a study in Nature Digital Medicine on an AI tool called RARE-PHENIX.

It focuses on diagnosing patients faster. Diagnosing a rare disease can take a long time. The authors of the paper note that the average delay is four to eight years. , and those delays are filled with misdiagnoses, inappropriate treatments, and unnecessary tests.

RARE PHENIX is focused on organizing the symptoms that physicians write down when examining a patient. Those symptoms may include symptoms that may or may not be part of rare condition. Patients, even if they have a rare condition, can have other symptoms due to comorbidities, aging, etc. Looking for patterns in the plethora of symptoms can be difficult. RARE-PHENIX organizes that chaos. It first uses a large language model to convert those listed symptoms into standardized terms. And then it ranks them as to whether they are likely due to a rare condition or not.

Testing showed the model was twice as good as ChatGPT.

An interesting aspect of this model is that it mirrors how clinicians approach a diagnosis. That produced substantially better results than a single-prompt ChatGPT approach.

Just as importantly, the tool doesn't make the diagnosis. It helps organize and prioritize the clinical clues for a physician to review. That’s a promising role for AI: helping clinicians see patterns they might otherwise miss while keeping clinical judgment a human process.

View the full podcast at

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Daniela Rogoff, MD, PhD, Chief Medical Officer, Skeletal Dysplasia of BridgeBio, discusses the efficacy of infigratinib to treat persons with achondroplasia.

Achondroplasia is a disorder of bone growth that prevents the changing of cartilage to bone, particularly in the long bones. It is characterized by dwarfism, limited range of motion at the elbows, macrocephaly, and small fingers. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis. More serious problems include spinal stenosis and hydrocephalus. Some patients may have delayed motor development early on, but cognition is normal. Achondroplasia is caused by genetic changes in the FGFR3 gene.

Positive topline results from the PROPEL 3 clinical trial (NCT06164951 (https://clinicaltrials.gov/study/NCT06164951) ) of oral infigratinib in children living with achondroplasia were recently announced. PROPEL 3 was a phase 3, global, one-year, randomized, double-blind, placebo-controlled study evaluating the efficacy and safety of infigratinib in children with achondroplasia, ages 3 to 18 years, with open growth plates. 

Infigratinib is a selective, reversible, ATP-competitive tyrosine kinase inhibitor primarily targeting the fibroblast growth factor receptors FGFR1, FGFR2, and FGFR3.

Key results from the study through week 52 included a change from baseline in annualized height velocity (AHV) superior to placebo, with an LS mean treatment difference of +1.74 cm/year and a mean treatment difference of +2.10 cm/year. Absolute AHV at week 52 also showed a significant improvement with infigratinib compared to placebo. Change from baseline in height Z-score was superior to placebo, with an LS mean treatment difference of +0.32 standard deviations (SD) and the LS mean change from baseline on the treatment arm of +0.41 SD.

In an exploratory analysis of children younger than 8, oral infigratinib showed statistical significance against placebo in change from baseline in upper-to-lower body proportionality at week 52, demonstrating an LS mean decrease of -0.05 against placebo. In the overall population, infigratinib achieved an LS mean decrease of -0.05, with a favorable LS treatment difference of -0.02 versus placebo at week 52.

Infigratinib was well-tolerated, with no discontinuations and no serious adverse events related to the study drug.

Based on these results, plans for submission of a New Drug Application (NDA) and Marketing Authorization Application (MAA) for infigratinib are underway. BridgeBio is currently enrolling participants in the observational run-in for the phase 3 trial and has an ongoing clinical trial of infigratinib for the newborn to 3 year old age groups in achondroplasia in the PROPEL Infant & Toddler trial (NCT07169279 (https://clinicaltrials.gov/study/NCT07169279?cond=achondroplasia%20infigratinib&limit=10&sort=@relevance&rank=3) ).

For more information, visit https://www.globenewswire.com/news-release/2026/09/09/3358343/0/en/oral-infigratinib-shows-meaningful-benefits-beyond-growth-within-52-weeks-in-children-with-achondroplasia-in-the-phase-3-propel-3-trial.html

To learn more about achondroplasia and other rare musculoskeletal conditions, visit https://checkrare.com/diseases/musculoskeletal-diseases/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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On this episode, we discuss the FDA approval of Enspryng for TED, the new FDA Rare Disease Framework Initiative, Ultrangenyx’s second sold PRV this month, and using AI to reduce diagnostic delays.

Produced by CheckRare.

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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On this episode, we discuss the FDA approval of Enspryng for TED, the new FDA Rare Disease Framework Initiative, Ultrangenyx’s second sold PRV this month, and using AI to reduce diagnostic delays.

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For people living with rare endocrine disorders, getting an accurate diagnosis can be a long and frustrating journey. Symptoms may be subtle, overlap with more common conditions, or involve multiple organ systems, making it difficult for healthcare providers to recognize the underlying disorder.

In this episode of the Rare Endocrine Exchange, endocrinologist Dr. Margarita Ochoa-Maya, and Dr. James Radke discuss why diagnostic delays occur and what can be done to help patients reach the right diagnosis sooner.

The conversation explores several important questions:

Why are rare endocrine disorders so difficult to diagnose? Symptoms may not immediately point to a specific rare condition, and patients may see multiple providers before the pieces come together.

What is the impact of a delayed diagnosis? Waiting months or years for answers can affect a patient's health, quality of life, and confidence in the healthcare system.

How can clinicians bridge the diagnostic gap? Recognizing patterns, considering rare diseases when symptoms don't fit, and knowing when to seek additional expertise can help move the diagnostic process forward.

What should providers do when they don't know what to do next? With thousands of rare diseases, no physician can know them all. Knowing when and where to seek guidance is an important part of caring for patients with complex conditions.

How can specialists work together more effectively? Rare endocrine disorders often require input from multiple specialties. Better communication and collaboration can help connect the dots and prevent patients from falling through the cracks.

The discussion also looks ahead at how patients, providers, and the healthcare system can work together to reduce diagnostic delays and improve care for people living with rare endocrine disease.

Watch the full conversation to hear Dr. Ochoa-Maya and Dr. Radke share their perspectives on improving the path to diagnosis and care.

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Andrew Dauber, MD, MMsc, Chief of Endocrinology at Children’s National, discusses the efficacy of vosoritide to treat persons with hypochondroplasia.

View the full interview at https://checkrare.com/efficacy-of-vosoritide-to-treat-hypochondroplasia/

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Jane Salmon, MD, Professor of Medicine at Weill Cornell Medical College, discusses antiphospholipid syndrome (APS), its impact on pregnancy, and emerging research into Cimzia (certolizumab pegol) as a potential approach to preventing serious pregnancy complications. 

APS is an autoimmune condition characterized by an increased risk of thrombosis and serious pregnancy complications (e.g., preeclampsia, placental insufficiency, growth restriction, intrauterine fetal death, and recurrent early miscarriages). Thrombosis may also cause severe, life-threatening complications such as stroke. Diagnosis involves testing for three types of antibodies: anti-cardiolipin, anti-beta 2 GP1, and the lupus anticoagulant, with the latter carrying the highest risk for thrombosis and pregnancy complications. Despite the significant burden of the condition, there are currently no FDA-approved therapies and patients are typically managed with low-dose aspirin and heparin.

The US Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation to certolizumab pegol for the prevention of placenta-mediated adverse pregnancy outcomes in pregnant women who have APS and are positive for lupus anticoagulant. Certolizumab pegol is a tumor necrosis factor (TNF) blocker currently indicated for a variety of autoimmune conditions.

Breakthrough Therapy Designation is granted to treatments intended to address serious or life-threatening conditions when preliminary clinical evidence indicates the therapy may demonstrate substantial improvement over available treatments on one or more clinically significant endpoints. The designation is designed to facilitate development and expedite the FDA review of promising new therapies. The designation for certolizumab pegol is supported by preliminary clinical evidence from the IMPACT clinical trial (NCT03152058 (https://clinicaltrials.gov/study/NCT03152058) ).

The trial met its primary endpoint, reducing the adverse outcome rate to 20% in the study population, compared to a 44% historical adverse outcome rate. Furthermore, 95% of the women in the trial had live-born babies who survived to hospital discharge, marking a significant improvement over the 37% rate observed in the participants' previous pregnancies. Although the intervention did not completely eliminate adverse outcomes, it made them significantly less severe by allowing for later gestational ages at the time of delivery.

For more information, visit https://www.prnewswire.com/news-releases/ucb-receives-us-fda-breakthrough-therapy-designation-for-cimziacertolizumab-pegol-in-pregnant-women-with-antiphospholipid-syndrome-aps-302873706.html

To learn more about rare autoimmune conditions, visit https://checkrare.com/diseases/autoimmune-autoinflammatory-disorders/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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Daniela Rogoff, MD, PhD, Chief Medical Officer, Skeletal Dysplasia of BridgeBio, discusses the efficacy of infigratinib to treat persons with achondroplasia.

To view the full interview, visit https://checkrare.com/efficacy-of-infigratinib-on-achondroplasia/

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