Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data

Abstract

AbstractAchondroplasia (ACH) is a rare, autosomal dominant skeletal dysplasia characterized by short stature, characteristic facial configuration, and trident hands. Before vosoritide approval in Japan, patients with ACH could start growth hormone (GH) treatment at age 3 years. However, ACH and its treatment in young Japanese children have not been studied. This retrospective, longitudinal, medical records‐based cohort study (before vosoritide approval) summarized symptoms, complications, monitoring, surgery/interventions, and height with/without GH in Japanese patients with ACH <5 years. Complications were observed in 89.2% of all 37 patients; 75.7% required surgery or intervention. All patients were monitored by magnetic resonance imaging; 73.0% had foramen magnum stenosis, while 54.1% had Achondroplasia Foramen Magnum Score 3 or 4. Of 28 GH‐treated patients, 22 initiating at age 3 years were generally taller after 12 months versus 9 non‐GH‐treated patients. Mean annual growth velocity significantly increased from age 2 to 3 versus 3 to 4 years in GH‐treated patients (4.37 vs. 7.23 cm/year; p = 0.0014), but not in non‐GH‐treated patients (4.94 vs. 4.20 cm/year). The mean height at age 4 years with/without GH was 83.6/79.8 cm. These results improve our understanding of young patients with ACH in Japan and confirm that early diagnosis of ACH and monitoring of complications help facilitate appropriate interventions.