Early initiation of therapy with vosoritide: case report. Description of the first Italian patient affected by achondroplasia treated with vosoritide before 2 years of age
By
Mila Ann Kalapurackal
Petra Wanker
July 6, 2026
Clinical Scorecard: Early Treatment with Vosoritide: A Case Study of Italy's First Patient with Achondroplasia Under Two Years Old
At a Glance
Category Detail
Condition Achondroplasia Key Mechanisms Caused by a gain-of-function mutation in the FGFR3 gene, leading to impaired endochondral ossification. Target Population Infants and children with achondroplasia, particularly those under 2 years of age. Care Setting Pediatric clinical setting with specialized care for rare diseases.
Key Highlights
Vosoritide is the first approved drug to improve linear growth in achondroplasia. The patient was treated with vosoritide at 7 months of age, showing a +0.35 SD improvement in length after 12 months. The therapy was well tolerated with no severe adverse effects reported. Achondroplasia has an incidence of approximately 1 in 25,000 births worldwide. Early therapy initiation is emphasized for better growth outcomes. Guideline-Based Recommendations
Diagnosis
Diagnosis confirmed through clinical manifestations and genetic testing for FGFR3 mutations. Management
Vosoritide administered at 30 µg/kg/day as per international guidelines. Monitoring & Follow-up
Regular evaluations and measurements every 3 months in a clinical setting. Risks
Potential for foramen magnum stenosis, monitored via MRI. Patient & Prescribing Data
Infants and children with genetically confirmed achondroplasia.
Vosoritide therapy initiated before 2 years of age under special approval, showing positive growth outcomes.
Clinical Best Practices
Initiate treatment with vosoritide as early as possible for improved growth. Conduct regular monitoring of growth parameters and potential complications. Utilize genetic testing for accurate diagnosis of achondroplasia. Related Resources & Content
