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Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Ravi Savarirayan1, Melita Irving2, Paul Harmatz3
1Murdoch Children's Research Institute, Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia.
Insights
This study collected growth data in children with achondroplasia to serve as a historical control for future vosoritide trials. Findings detail growth velocity and height z-scores, crucial for understanding achondroplasia progression.
Area of Science:
- Pediatric Endocrinology
- Skeletal Dysplasias
- Clinical Data Science
Background:
- Achondroplasia is a genetic disorder affecting bone growth, leading to disproportionate dwarfism.
- Understanding typical growth patterns is essential for evaluating potential therapies.
Purpose of the Study:
- To gather baseline growth parameters in children with achondroplasia.
- To establish a historical control group for interventional trials, specifically those involving vosoritide.
- To delineate the natural history of growth in achondroplasia.
Main Methods:
- Prospective, observational study design.
- Enrollment of 363 children (≤17 years) across 28 centers in 8 countries.
- Follow-up every 3 months, collecting medical history, physical examinations, and growth metrics.
Main Results:
- Mean follow-up duration was 20.4 months.
- Annualized growth velocity (AGV) significantly decreased with age, from over 11 cm/year in infants to 3.6 cm/year by age 10.
- Mean height z-scores were substantially below average, decreasing further with age, and a disproportionate upper-to-lower body segment ratio was observed.
Conclusions:
- This study provides one of the largest prospective datasets on growth in achondroplasia.
- The data serves as a robust historical control for assessing therapeutic interventions.
- Findings enhance the understanding of achondroplasia's natural history and growth trajectory.
Purpose:
This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control.
Methods:
In this prospective, observational study, participants (≤17 years) underwent a detailed medical history and physical examination and were followed every 3 months until they finished participating in the study by enrolling in an interventional trial or withdrawing.
Results:
A total of 363 children were enrolled (28 centers, 8 countries). Mean (SD) follow up was 20.4 (15.0) months. In participants <1 year, mean annualized growth velocity (AGV) was 11.6 cm/year for girls and 14.6 cm/year for boys. By age 1 year, mean AGV decreased to 7.4 cm/year in girls and 7.1 cm/year in boys. By age 10 years, mean AGV decreased to 3.6 cm/year for both sexes. Mean height z-score in participants <1 year was -2.5 for girls and -3.2 for boys and decreased up to the age 5 years (-5.3 for girls; -4.6 for boys). Girls and boys had a disproportionate upper-to-lower body segment ratio. Mean ratio was highest in participants aged <1 year (2.9 for girls; 2.8 for boys) and decreased gradually to approximately 2 in both sexes from 4 years of age onward.
Conclusion:
This study represents one of the largest datasets of prospectively collected medical and longitudinal growth data in children with achondroplasia. It serves as a robust historical control to measure therapeutic interventions against and to further delineate the natural history of this condition.
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