Caroline Hastings, MD, Professor of Pediatrics at UCSF Benioff Children’s Hospital Oakland, discusses an open-label study of patients under 3 years of age with Niemann-Pick disease type C (NPC) being treated with Trappsol Cyclo (HPβCD).
NPC is a rare, complex, lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. Children typically present with this disease with rapid clinical deterioration. In the neonatal period, symptoms include hepato-/splenomegaly, ascites, fetal hydrops, and transient neonatal cholestasis. Neurological symptoms typically include developmental delays of motor milestones and progressive centrally-mediated hypotonia.
HPβCD is a proprietary formulation of hydroxypropyl beta cyclodextrin that facilitates the transportation of cholesterol. The safety, tolerability, and ability to penetrate the central nervous system of intravenous HPβCD has been established in clinical studies in patients with NPC. An ongoing, pivotal, phase 3, placebo-controlled clinical trial is evaluating the safety of biweekly IV HPβCD (2000 mg/kg). The study is 192 weeks and includes an open-label sub-study in patients less than 3 years of age. The clinical global impression-severity (CGI-S) and clinical global impression-change (CGI-C) scales assess response to HPβCD on overall disease severity and disease change from baseline, respectively.
As of September 2024, ten patients have been enrolled, with mild baseline CGI-S to marked disease stage, and the majority showing neurological symptoms at recruitment. 7 of 8 patients who have reached 24 weeks and 6 of 7 who have reached 48 weeks show stabilization or improvement in CGI-C. Additionally, a patient enrolled at 7 months old diagnosed neonatally with abnormal liver enzymes has shown progressive improvement in liver function despite not being on any other disease modifying therapy.
To learn more about NPC and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/