Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Status:
Active, not recruiting
Trial end date:
2022-02-01
Target enrollment:
Participant gender:
Summary
Niemann-Pick disease, type C (NPC) is a lethal, autosomal recessive, lysosomal storage
disorder characterized by neurodegeneration in early childhood and death in adolescence. NPC
results from mutation of either the Niemann-Pick C1 disease (NPC1) (~95% of cases) or NPC2
genes. NPC is characterized by the endolysosomal storage of unesterified cholesterol and
lipids in both the central nervous system and peripheral tissues such as the liver.
Individuals with NPC demonstrate progressive central nervous system decline including
inability to coordinate balance, gait, extremity and eye movements. Acute liver disease in
the newborn/infant period is frequently observed, but subsequently resolves. However,
chronic, sub-clinical liver disease persists. Intrathecal 2-Hydroxypropyl-β-Cyclodextrin
(HP-β-CD, VTS-270) has proven effective in reducing the signs and prolonging life in animal
models and Phase 1/2a data support efficacy in NPC1 patients. VTS-270 also has been shown to
be effective in treating liver disease in the NPC1 cat.
This Phase 1/2a, open-label, multiple ascending dose trial will evaluate whether VTS-270
administered intravenously is effective in treating acute liver disease in NPC1 infants.
Phase:
Phase 1/Phase 2
Details
Lead Sponsor:
Washington University School of Medicine
Collaborators:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Johns Hopkins University