New noninvasive biomarkers are advancing early detection of fibrosis. A FAP-Index blood test reduces uncertain liver fibrosis results by up to 70%, a urine-based molecular imaging test detects kidney fibrosis with 84% sensitivity and 94% specificity, and liver MRE can track Gaucher disease severity over time.
Gene therapies for Fabry and Gaucher disease showed sustained benefits in early trials: all 11 Fabry patients stopped enzyme replacement therapy, and four of six Gaucher patients stayed off standard treatment for up to two years.
The FDA has granted accelerated approval to Denali Therapeutics' Avlayah (tividenofusp alfa-eknm), the first therapy targeting neurological symptoms of Hunter syndrome. The approval was based on a surrogate endpoint measuring heparan sulfate reduction in cerebrospinal fluid, with confirmatory study results required for full approval. The global Hunter syndrome treatment market is projected to reach $2.6 billion by 2033.
FDA granted priority review to Sanofi's venglustat for type 3 Gaucher disease (action date Nov 25, 2026). Phase 3 LEAP2MONO data showed venglustat met both primary endpoints and three of four key secondary endpoints.
Spruce Biosciences completed two Type B meetings with the FDA regarding tralesinidase alfa enzyme replacement therapy for Sanfilippo syndrome type B. The company now anticipates BLA submission in Q4 2026 to accommodate drug product process performance qualification requirements.
