Endocrine Abstracts

JOINT755

Background: Vosoritide is an engineered C-type natriuretic peptide analog and the first pharmacological, precision treatment approved for use in children with achondroplasia. While international guidelines provide practical guidance for healthcare providers worldwide, real-world experience data remains limited, particularly in Central Asia. This study aims to present our experience with Vosoritide and highlight challenges to treatment.

Methods and Results: Data were collected from hospital records, including patients receiving Vosoritide therapy at the “University Medical Center” Corporate Fund (Astana). In total, 38 children in Kazakhstan are receiving Vosoritide. The first 10 children were enrolled on 10 March 2023 in Almaty, and the last 14 patients, aged between 2.8 and 12.6 years, started treatment in December 2024 in Astana. The most common complications of achondroplasia among our children are ventricular enlargement with symptoms of hydrocephalus, spinal kyphosis, respiratory disorders, and symptoms of spinal canal stenosis. Worldwide, achondroplasia is the most common skeletal dysplasia, estimated to affect about 1 in every 40,000 children. There are approximately 200 children with this diagnosis in Kazakhstan, meaning only around 20% of children are receiving the treatment, highlighting the gap in access to therapy.

Discussion: Our findings align with international data on Vosoritide’s safety profile. However, significant challenges remain, including limited accessibility and the high cost of medication, that create complex regulatory pathways and barriers to therapy. Additionally, based on our experience, we emphasize the significance of counseling and training programs before initiating treatment. Possible cases of treatment refusal due to divided opinions highlight the need for psychological preparation. Frequently, parents fear potential adverse effects or question the efficacy of the drug, which underlines the need for family education sessions. We also recognize the psychological trauma associated with daily injections experienced by children of different ages, which may lead to non-compliance. A multidisciplinary strategy, including parental support and structured counseling, may improve adherence to the treatment.

Conclusion: This study provides valuable data on the use of Vosoritide in Central Asia. While the treatment has improved quality of life, accessibility remains a key concern. Future efforts should also focus on the long-term safety and efficacy of the therapy, which will be vital in optimizing patient education programs and ensuring psychological support for families. Additionally, monitoring and early intervention for complications, enhancing the quality of health professionals, and streamlined regulatory approval procedures are crucial to improving treatment outcomes.

Keywords: Vosoritide, Achondroplasia