Rare Disease

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.

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

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

ABS-1230 entered phase 1b/2 testing for KCNT1-related epilepsy as Actio also joined the FDA Rare Disease Evidence Principles process.

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

FDA granted rare pediatric disease designation to SB-101 for urea cycle disorders, a cell-based liver therapy set for phase 1/2 testing.

FDA granted rare pediatric disease designation to investigational (Z)-endoxifen for McCune-Albright syndrome in girls.

The approval marks the first treatment option for patients with this rare condition.