Retinal Structural and Microvascular Findings During Novel NPR-B-Targeted Vosoritide Therapy in Children with Achondroplasia.
No significant ocular abnormalities or changes in retinal structure were found in children with achondroplasia after one year of vosoritide therapy.
Where it sits
this study against the rest of the vosoritide corpusSummary and findings
This study evaluated ocular findings during vosoritide therapy in children with achondroplasia. Twelve pediatric patients underwent standardized ophthalmologic examinations, including OCT and OCTA imaging, at baseline and after 12 months of treatment. No clinically relevant ocular pathology was identified, and changes in retinal structure or microvascular perfusion were not statistically robust.
Abstract
<b>Background:</b> The aim of this study was to evaluate the short-term ocular findings during vosoritide therapy in children with achondroplasia using optical coherence tomography (OCT) and OCT angiography (OCTA). <b>Methods:</b> In this study, pediatric patients with genetically confirmed achondroplasia underwent standardised ophthalmologic examination, OCT, and OCTA imaging at baseline and after 12 months of vosoritide treatment. Structural parameters, including macular thickness and peripapillary retinal nerve fiber layer (RNFL), as well as vascular densities of the superficial and deep capillary plexuses and choriocapillaris, were analysed. Findings were compared longitudinally and with age- and sex-matched healthy controls. <b>Results:</b> A total of 12 patients and 12 controls were included. During the 12-month follow-up, nominal increases were observed in nasal parafoveal thickness and in average, superior, and nasal RNFL thickness (<i>p</i> < 0.05); however, none remained significant after false-discovery-rate correction. No significant longitudinal changes were detected in OCTA-derived vascular densities. However, vascular density was significantly lower in specific regions in the achondroplasia group compared to controls both before and after treatment. No clinically relevant ocular pathology was identified. <b>Conclusions:</b> No clinically apparent ocular abnormalities or statistically robust longitudinal changes in retinal structure or microvascular perfusion were identified over one year of vosoritide treatment in this small, preliminary cohort.
Background
This paper addresses the ocular effects of vosoritide therapy in children with achondroplasia, a genetic condition affecting bone growth. Prior research has indicated potential benefits of vosoritide on growth parameters, but its impact on ocular health was not well understood. This study aims to fill that gap by assessing retinal structure and microvascular changes during treatment.
Methods
The study utilized a longitudinal design involving pediatric patients with genetically confirmed achondroplasia. A total of 12 patients were examined at baseline and after 12 months of vosoritide treatment, with standardized ophthalmologic assessments, OCT, and OCTA imaging. Primary outcomes included structural parameters like macular thickness and RNFL thickness, while secondary outcomes focused on vascular densities.
Results
During the 12-month follow-up, nominal increases were observed in nasal parafoveal thickness and in average, superior, and nasal RNFL thickness (p < 0.05); however, none remained significant after false-discovery-rate correction. No significant longitudinal changes were detected in OCTA-derived vascular densities. Vascular density was significantly lower in specific regions in the achondroplasia group compared to controls both before and after treatment.
Interpretation
The findings suggest that while there were nominal increases in certain retinal thickness measures, they did not hold statistical significance after correction, indicating limited clinical relevance. The lack of significant changes in vascular densities and the absence of ocular pathology suggest that vosoritide may not adversely affect ocular health in this population. However, the small sample size and lack of robust findings limit the conclusions that can be drawn.
Key findings
- 12 patients and 12 controls included.
- Nominal increases in nasal parafoveal thickness and average, superior, and nasal RNFL thickness, p < 0.05.
- No significant longitudinal changes detected in OCTA-derived vascular densities.
- Vascular density significantly lower in specific regions in the achondroplasia group compared to controls both before and after treatment.
- No clinically relevant ocular pathology identified.
Limitations
- small n=12
- no significant findings after false-discovery-rate correction
- short follow-up of 12 months
- no clinically relevant ocular pathology identified