Lysosomal diseases are a collection of more than 70 clinical syndromes with incidence rates ranging from 1 in 20,000 live births (Gaucher disease) to 1 in 300,000 live births (Wolman disease). Taken together, lysosomal diseases are responsible for a significant amount of disability and disease burden.
Testing New Therapies
The rarity of each lysosomal disease means that no single medical research center has an opportunity to see sufficient numbers of patients with any one lysosomal disease to effectively describe its full spectrum, or to adequately test any new therapies.
Combined and Integrated Efforts
The combined and integrated efforts of the Lysosomal Disease Network (“LDN”) focus on creating a network of centers with expertise in one or more of these diseases in order to solve major challenges in diagnosis, disease management, and therapy. Solutions to these problems will have a direct impact on patients suffering from lysosomal disease and important wider implications for medical practice.
aspartylglucosaminuria; Batten disease (neuronal ceroid lipofuscinosis (NCL) (infantile, late infantile, juvenile, and adult-onset)); cystinosis; Danon disease; Fabry disease; Farber’s lipogranulomatosis; fucosidosis; galactosialidosis types I, II and III; Gaucher disease types I, II and III; glycogen storage disease; GM1 and GM2 gangliosidoses (infantile, juvenile, and adult-onset); Krabbe disease; lysosomal acid lipase deficiency (LALD) including Wolman disease and cholesterol ester storage disease; alpha-mannosidosis types I and II; beta-mannosidosis; metachromatic leukodystrophy; mucolipidosis types II, III, and IV; mucopolysaccharidosis (MPS) types I, II, III, IV, VI and VII (Hurler, Hurler–Scheie, and Scheie; Hunter, Sanfilippo, Morquio, Maroteaux–Lamy, and Sly syndromes, respectively); multiple sulfatase deficiency; Niemann–Pick disease types A, B and C; Pompe disease; Sandhoff disease (infantile and juvenile-onset); Schindler disease types I and II; sialidosis types I and II; Tay-Sachs disease (infantile, juvenile and adult-onset).