To improve the lives of children living with a Lysosomal Storage Disease (LSD). We remain laser focused on accelerating the discovery and development of treatment options for these diseases with significant unmet medical needs.
Our current focus is on Acid Sphingomyelinase Deficiency (ASMD), also referred to as Niemann Pick Disease Types A & B (NPA & NPB).
Babies born with a Lysosomal Storage Disease each day
Identified Lysosomal Storage Diseases (LSD's)
1 in 7700 Children are diagnosed with a LSD
FDA approved treatment options currently exist for ASMD
News & Notes
Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling
Clinicopathologic correlations of a case report of a child with NPA
Adeno-associated viral vector serotype 9–based gene therapy for Niemann-Pick disease type A