Caroline Hastings, MD, Hematologist-Oncologist and Neuro-Oncologist from the UCSF Benioff Children’s Hospital, discusses some the ‘tell-tale’ signs of children with Niemann-Pick disease Type C (NPC).
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 and a highly variable symptom profile and onset of symptoms. 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.
As Dr. Hastings explains, the complex nature of NPC and heterogeneous clinical profile makes it difficult to determine “tell-tale” signs of the disease; however, changes in vertical gaze in combination with progressive motor or developmental decline, hepatomegaly, and/or splenomegaly should lead to the clinical suspicion of NPC.
There are currently no FDA approved drugs for this disease, though miglustat has been used in mild-to-moderate cases to slow the progression of the disease. As of right now, the focus seems to be symptom management. Fortunately, there are a number of targeted therapies currently being investigated in clinical trials, including Cyclo Therapeutics’ hydroxypropyl betacyclodextrin.
To learn more about NPC and other lysosomal storage diseases, visit checkrare.com/diseases/lysosomal-storage-disorders/
