Genetic Disorders

FDA expanded wilate's label to routine prophylaxis in VWD patients aged 6 and up, based on phase 3 WIL-31 data showing an 84% drop in bleeding rate.

FDA cleared an IND for a NCATS-sponsored AAV9/SUMF1 gene therapy in multiple sulfatase deficiency, moving the ultra-rare disease toward its first-in-human trial.

FDA accepted Pharvaris's NDA for deucrictibant IR, an oral B2 antagonist for HAE attacks, based on phase 3 RAPIDe-3 data.

BioMarin reports 3-year vosoritide growth data in hypochondroplasia and early BMN 333 findings in achondroplasia.

Diazoxide choline showed sustained hyperphagia improvements in Prader-Willi syndrome after randomized withdrawal and retreatment.

Setmelanotide reduced BMI measures, fat mass, and hyperphagia scores in interim phase 2 Prader-Willi syndrome data.

The FDA extended its review of adrabetadex for infantile-onset Niemann-Pick disease type C to November 17, 2026, after a major NDA amendment.

Phase 3 data showed vosoritide significantly improved annualized growth velocity and height outcomes in children with hypochondroplasia.

FDA accepted a levacetylleucine sNDA for ataxia-telangiectasia and set a September 19, 2026, target action date.

Early phase 2 data suggest zovegalisib may reduce lesion volume and improve symptoms in PIK3CA-driven vascular anomalies.

Early OTC-HOPE data link ECUR-506 to fewer hyperammonemic events in infants with neonatal-onset OTC deficiency.

BMN 401 met a biochemical end point but missed radiographic improvement in a phase 3 trial of children with ENPP1 deficiency.

Preclinical data for Gemma's GB703 in DMD and GB221 in SMA1 highlight early gene therapy strategies, but clinical questions remain.

RGX-202 met a microdystrophin biomarker endpoint in phase 3 Duchenne muscular dystrophy data, with functional findings still preliminary.

RVL-001, a vorinostat formulation, has entered early placebo-controlled studies in Rett syndrome and Pitt-Hopkins syndrome.

Early AK-OTOF trial data showed hearing improvements and favorable safety in children with OTOF-mediated hearing loss.

Two-year data from the pivotal ApproaCH trial showed sustained growth improvements with TransCon CNP in pediatric achondroplasia.

New expert recommendations outline pediatric glucocorticoid dose reduction strategies after starting crinecerfont in classic CAH.

Phase 3 sunRIZE trial of ersodetug in congenital hyperinsulinism missed its primary endpoint but showed CGM-based glycemic gains.

The FDA approved lunsotogene parvec-cwha as the first gene therapy for genetic hearing loss caused by biallelic OTOF variants.

The approval marks the first treatment for this neurodegenerative with a low survival rate beyond 3 years.

The FDA approved fibrinogen, human-chmt to treat acute bleeding episodes in adult and pediatric patients with congenital fibrinogen deficiency.

Genetic testing in at-risk children can improve monitoring, guide activity choices, reduce stress, and prepare families for future therapies.