About Achondroplasia
Achondroplasia is the most common form of disproportionate short stature, caused by a recurrent gain-of-function variant (p.Gly380Arg) in FGFR3, which encodes fibroblast growth factor receptor 3, resulting in constitutive inhibition of endochondral bone ossification. Clinical features include rhizomelic shortening of limbs, macrocephaly with midface hypoplasia, trident hand configuration, and lumbar hyperlordosis, with intelligence and life expectancy generally normal in the absence of complications. Neurological complications from foramen magnum stenosis and spinal canal narrowing represent the most serious potential morbidities.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Achondroplasia trials.
Height, growth velocity, and limb-length measurements are primary endpoints in most trials — ensure current anthropometric data (within 3 months) is available using condition-specific growth charts.
Most approved and investigational therapies (vosoritide, CNP analogues, FGFR3 inhibitors) have specific age and weight cutoffs; confirm current age, weight, and growth plate status before applying.
Prior or current growth hormone therapy, limb-lengthening surgery, or foramen magnum decompression must be disclosed as these significantly affect trial eligibility and stratification.
Patient Resources
Find recruiting Achondroplasia trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Achondroplasia. Updated daily.