Lysosomal storage disorders (LSDs) are inherited metabolic conditions caused by enzyme defects, leading to the accumulation of undigested substrates that affect various organs and tissues.

There are over 50 types of LSDs, including notable conditions such as Gaucher disease, Fabry disease, Tay-Sachs disease, and Pompe disease, each presenting a range of symptoms from neurological issues to organ damage.

Tay-Sachs disease is a severe neurodegenerative disorder primarily affecting infants, with no cure available; current treatments focus on symptom management while research continues into gene and enzyme therapies.

Gaucher disease, caused by GBA gene mutations, has seen advancements in enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), but still lacks a definitive cure, necessitating lifelong symptom management.

Pompe disease treatments are limited, with ERT options like MYOZYME and LUMIZYME available, but the market remains small due to the rarity of the disease.

Sandhoff disease, a rare disorder caused by HEXB gene mutations, leads to neurodegeneration, and its market potential will be influenced by ongoing research and treatment development.

Metachromatic Leukodystrophy (MLD) has limited treatment options, but emerging gene therapies are being explored as a promising avenue for this ultra-rare disorder.

Mucopolysaccharidosis I (MPS I) is currently the only LSD with an approved ERT, ALDURAZYME, yet there is a significant demand for novel therapies due to limitations in existing treatments.

Mucopolysaccharidosis III (MPS III) currently has no approved therapies, but ongoing research into gene therapy offers potential for future treatment options.

The LSD market is projected to grow significantly from 2025 to 2034, driven by advances in gene therapy and enzyme replacement therapies.

Niemann-Pick Disease types A and B have seen the approval of XENPOZYME, the first therapy targeting non-CNS symptoms, which may contribute to a growing market.

Niemann-Pick Disease type C has recently gained two new therapies that modify disease progression, although challenges remain in diagnosis and treatment access.