Sharon Hrynkow, MD, Chief Scientific Officer and Senior VP for Medical Affairs, Cyclo Therapeutics, discusses the mechanism of action of hydroxypropyl betacyclodextrin (Trappsol® Cyclo™) which is currently being evaluated as a treatment of Niemann-Pick Disease Type C1 (NPC1) in a phase 3 study.

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. The community is in need of a new therapeutic approach as, recently, the FDA denied approval of arimoclomol as a treatment for NPC.

As Dr. Hrynkow explains, NPC is characterized by a buildup of cholesterol in the cells. Hydroxypropyl betacyclodextrin has an affinity for cholesterol and moves cholesterol through lysosomes, in essence taking on the role of the NPC1 protein. 

For more information about the phase 3 study including enrollment information, visit https://clinicaltrials.gov/ct2/show/NCT04860960 

To learn more about NPC and other lysosomal storage diseases, visit checkrare.com/diseases/lysosomal-storage-disorders/ \