Caroline Hastings, MD, Hematologist-Oncologist and Neuro-Oncologist from the UCSF Benioff Children’s Hospital, explains why finding a treatment for Niemann-Pick Disease Type C (NPC) has been difficult.

NPC is a disabling neurogenetic disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood. This very rare genetic disorder is marked by progressive motor dysfunction. The underlying, principal abnormality is the cell’s inability to adequately move fatty molecules (e.g., cholesterol) out of the cell’s lysosomes, resulting in accumulations in the lysosomes and late endosomes. This dysfunction has been associated with mutations in one of two genes (NPC1 or NPC2). It can result in the patient’s death soon after birth or manifest as a chronic disorder with symptoms worsening slowly over time. There are currently no FDA approved drugs for this disease, and last summer, the FDA denied approval of arimoclomol, a potential therapy for NPC.

As Dr. Hastings explains, one obstacle in effectively treating NPC is a delay in diagnosis due to the variable symptom profile and onset of symptoms. As the disease is progressive, late diagnosis leads to patients that are more severely impacted when beginning treatment which in turn often makes the treatment less effective. The variety of clinical presentations also has made it difficult to develop an individual therapy that is effective against all NPC symptoms.

To learn more about NPC and other lysosomal storage diseases, visit