Rare Disease

The FDA accepted the dersimelagon NDA with priority review for EPP and XLP; a decision on the oral MC1R agonist is expected by February 2027.

The FDA approved Fayuvi (rebisufligene etisparvovec-hopf), a one-time AAV9 gene therapy, as the first treatment for pediatric MPS IIIA (Sanfilippo syndrome type A).

The FDA approved 40 mg and 50 mg twice-daily leniolisib (Joenja) for children ages 4 to 11 years weighing at least 27 kg with activated PI3Kδ syndrome.

Week 52 data from the reACHin trial show navepegritide stabilized foramen magnum stenosis and boosted growth in infants with achondroplasia.

Phase 3 CANOPY-HCH-3 data show vosoritide significantly improved growth velocity, height, and arm span in children with hypochondroplasia.

The FDA approved zilganersen (Zanvastro) for Alexander disease in patients from infancy through adulthood, based on Phase 1-3 gait speed data.

Scholar Rock says apitegromab's SMA BLA stays on track for its September 30, 2026, PDUFA date after dropping one of 2 fill-finish sites.

CSL reported that most children receiving garadacimab remained attack-free in a recent phase 3b study of garadacimab-gxii for prevention of hereditary angioedema.

FDA accepted BioMarin's sNDA to convert vosoritide's achondroplasia indication to full approval, with a PDUFA date of February 28, 2027.

VCA-894A received FDA rare pediatric disease designation for CMT2S, an ultrarare inherited neuropathy with limited treatment options.

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.

The July 1, 2026 decision makes exagamglogene autotemcel the first gene therapy approved for SCD in children younger than 12 years.

Cadrenal has announced that it plans to seek FDA Rare Pediatric Disease Designation for tecarfarin in children with Kawasaki disease and coronary aneurysms.

New Brain Communications data show doxecitine and doxribtimine reduce mortality risk by up to 94% in early-onset thymidine kinase 2 deficiency.

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

pCPA gains FDA Orphan Drug Designation for monoamine oxidase deficiency, signaling early development for an ultrarare neurodevelopmental disorder.

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.

FDA designations for investigational GEn-1123 may support development in Duchenne muscular dystrophy, but clinical data remain limited.

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