Achondroplasia
The most common form of skeletal dysplasia causing short-limbed dwarfism, caused by mutations in the FGFR3 gene leading to impaired endochondral bone formation. Affects approximately 1 in 15,000-40,000 live births. Characterized by rhizomelic shortening, macrocephaly, and midface hypoplasia.
Quick Answer
What it is
The most common form of skeletal dysplasia causing short-limbed dwarfism, caused by mutations in the FGFR3 gene leading to impaired endochondral bone formation. Affects approximately 1 in 15,000-40,000 live births.
Key findings
- Grade A: Annualized Growth Velocity (Vosoritide (Voxzogo))
- Grade A: Height Z-Score Improvement (Vosoritide (Voxzogo))
- Grade A: Safety and Tolerability (Vosoritide (Voxzogo))
Safety
- Phase 3 trial: Well tolerated with manageable adverse events.
ℹ️ Quick Facts
Quick Facts: Achondroplasia
- Supplements Studied:1
1 supps · 4 outcomes
Detailed Outcomes
A
Annualized Growth Velocity
Phase 3 trial (n=121, ages 5-14): Vosoritide significantly increased annualized growth velocity vs placebo at 52 weeks. First disease-modifying treatment for achondroplasia. Led to FDA accelerated approval Nov 2021.
moderate↑Improves
A
Height Z-Score Improvement
Phase 3 trial: Significant improvement in height Z-scores vs placebo over 52 weeks. Increases in growth velocity sustained over treatment period. EMA approved for ages 2+ with open epiphyses.
moderate↑Improves
A
Safety and Tolerability
Phase 3 trial: Well tolerated with manageable adverse events. Most common: injection site reactions, transient blood pressure decreases. No serious safety signals. Approved via accelerated pathway.
moderate↑Improves
B
Long-Term Growth (Extension)
Open-label extension studies: Sustained growth velocity improvements over multiple years of treatment. Real-world data from multiple centers confirms efficacy. Treatment continues until epiphyseal closure.
moderate↑Improves