Elizabeth Berry-Kravis, MD, PhD, co-director of the Molecular Diagnostics Section of the Genetic Laboratory at Rush Medical College in Chicago, describes different treatment options for Niemann-Pick 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. It can result in the patient’s death soon after birth or manifest as a chronic disorder with symptoms worsening slowly over time.
Management of NPC largely consists of treating patients’ individual symptoms such as urologic deterioration, seizures, hypersalivation and drooling, spasticity, bowel dysfunction, and behavioral or psychiatric issues. Although miglustat was approved for the treatment of NPC by the European Medicines Agency in 2006, it has not been approved for this indication by the U.S. Food and Drug Administration. The drug inhibits the glycosphingolipid (GSL) synthesis, which seems to slow accumulation of this lipid in brain tissue. As a result, it may slow the development of neurologic symptoms associated with NPC.
Multidisciplinary care management may be the best approach to helping patients with NPC (and their families or caregivers), because NPC affects different organs, muscle tone, and mental status.
The prognosis for the disease can be poor for infants (<2 months) demonstrating symptoms just after birth (like cholestasis, hepatomegaly, or splenomegaly), but other patients may have mild disease that is not diagnosed until they are adults. For those expressing long-term, severe symptoms, death may result from neurologic decline and other life-threatening complications of NPC.