Sharon Hrynkow, MD, Chief Scientific Officer and Senior VP for Medical Affairs, Cyclo Therapeutics, discusses the phase 3 TransportNPC study evaluating hydroxypropyl betacyclodextrin (Trappsol® Cyclo™) for the treatment of Niemann-Pick disease type C1 (NPC1). This study has just begun enrolling patients.
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 and lipids) out of the cell’s lysosomes, resulting in accumulations in the lysosomes and late endosomes. This leads to fatty substances building up in many organ systems throughout the body. 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 describes, TransportNPC is a randomized, double-blind, placebo-controlled, parallel group, multicenter study designed to evaluate the safety, tolerability, and efficacy of 2000 mg/kg of hydroxypropyl betacyclodextrin administered intravenously plus standard of care (SOC) compared to placebo administered intravenously plus SOC in patients with NPC1. The TransportNPC study intends to enroll at least 93 pediatric (age 3 to less than 18 years) and adult patients with NPC1 in at least 23 study centers in 9 countries. Eligible patients will be randomized 2:1 to receive hydroxypropyl betacyclodextrin or placebo. Randomization will not be constrained based on patient age, nor will patient enrollment be gated by patient age. The study duration is 96 weeks and includes an interim analysis at 48 weeks. The Company expects to report topline results from the interim analysis in the first half of 2023.
For more information about the study and enrollment, visit https://clinicaltrials.gov/ct2/show/NCT04860960
To learn more about NPC and other lysosomal storage diseases, visit checkrare.com/diseases/lysosomal-storage-disorders/