Chronic Visceral ASMD (NPB)
In contrast to the infantile neurovisceral and chronic neurovisceral forms of ASMD, chronic visceral ASMD (NPB) is characterized by the absence of central nervous system (CNS) involvement, with the onset of multisystem manifestations ranging from infancy to adulthood.
Common clinical features include but definitely are not limited to delayed growth and start of puberty, hepatosplenomegaly, thrombocytopenia, fatigue, interstitial lung disease, bone & joint pain, and liver disease/cirrhosis. Patients can live into late adulthood or die prematurely from complications including respiratory disease, liver disease, and hemorrhage.
Currently there are no approved therapies for Chronic Visceral ASMD (NPB), however there is an Enzyme Replacement Therapy (ERT) in late stage trials for both pediatric and adult patients that has demonstrated positive results. Approval for this ERT treatment is expected sometime in 2021.