New Medicines

Achondroplasia (dwarfism) in children


New molecular entity

Development and Regulatory status

Pre-registration (Filed)
Pre-registration (Filed)
Phase III Clinical Trials
Jul 20 · Filed in EU via centralised procedure for treatment of achondroplasia [10].
Feb 20 · BioMarin is planning to file in 2020 [9].
Dec 19 · Based on data from the PIII trial, the company plans to meet with health authorities in H1 2020 to discuss plans for submitting marketing applications. [4]


The FGFR3 gene mutation interferes with how chondrocytes multiply and line up. This C-type natriuretic peptide stimulant initiates intracellular signals that inhibit the overactive FGFR3 pathway to normalise bone growth [2].
Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. It occurs as a result of a spontaneous genetic mutation in ~80% of pts and is inherited in ~20%. It appears to affect males and females in equal numbers.[1]
Achondroplasia (dwarfism) in children
Subcutaneous infusion

Further information

To be confirmed

Trial or other data

Dec 19 · Positive final results announced from randomised, double-blind, placebo-controlled PIII trial (NCT03197766)evaluating the efficacy and safety of vosoritide as a once daily s.c. 15ug/kg/day injection in 121 children aged 5-15. The placebo-adjusted change from baseline in growth velocity after 1 yr (primary endpoint) was 1.6 cm/yr (p<0.0001).[4]
Jun 19 · PII open label extension trial initiated to evaluate the safety and efficacy of vosoritide in ~70 children in the US with achondroplasia (NCT03989947). Data are expected in Q3 2026. [3,7]
Jun 19 · Positive safety and efficacy data from PII trial (NCT03583697). The treated cohort gained a mean of 5.7cm of cumulative height over predicted height. The annualised growth velocity increased from baseline in all cohorts during each 12-month interval by 1.10 to 2.34 cm/year through 42 months. Vsoritide was safe and well tolerated though mild and transient injection-site reactions were reported. Serious adverse events occurred in 4 pts (grade 3 obstructive sleep apnea, thyroglossal cyst, syrinx and grade 1 tonsillar hypertrophy).[3]
May 18 · PII randomised, placebo-controlled trial (NCT03583697) initiated to assess the efficacy, safety and tolerability of vosoritide in ~ 70 children in the US, Australia and the UK aged 0-5 with achondroplasia.[3,8]
Dec 17 · A PIII open label long-term extension trial is initiated to evaluate the safety and efficacy of the 15 µg/kg/day dose of vosoritide in children in Australia who participated in a previous PIII study (NCT03424018 - for this long term extension study). Data are expected in Q3 2024. [3,6]
Dec 16 · Randomised, placebo-controlled PIII trial (NCT03197766) initiated to evaluate the safety and efficacy of vosoritide in 110 children (aged 5-14) with achondroplasia ages 5-14 in Australia, Spain and the UK. The primary endpoint is the change in growth velocity from baseline over 1 year vs. placebo.[3,5]

Evidence based evaluations