Overview

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease

Status:
Completed
Trial end date:
2017-03-01
Target enrollment:
Participant gender:
Summary
Background: - Hydroxypropyl beta cyclodextrin (HPBCD) is being tested for a disease called Niemann-Pick disease type C1 (NPC1). NPC1 is a genetic disorder that results in gradual loss of nervous system function. Cholesterol and other fats have trouble moving out of the brain cells, which makes the cells work poorly and leads to symptoms. There is no treatment currently approved in the US for NPC1. Researchers want to test if it is safe to use HPBCD for NPC1. They want to see if it can help brain cells process cholesterol better. Objectives: - To test the safety and effectiveness of HPBCD for NPC1. Eligibility: - Individuals between 2 and 25 years of age who have been diagnosed with NPC1 and who have not already received HPBCD in an attempt to treat NPC1. Design: - Participants will be screened with a physical exam and medical history. They will provide blood and urine samples for screening. They will also have neurological tests, including tests of hearing, speech and movement. - Participants will have a lumbar puncture (also called a spinal tap) every month to deliver the drug to the spinal fluid that surrounds the brain. The length of the trial will be determined by the safety and efficacy information that is obtained. - Treatment will be monitored with frequent blood and urine tests, cerebral spinal fluid tests, hearing and neurological exams.
Phase:
Phase 1
Details
Lead Sponsor:
Vtesse Inc.
Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company
Collaborator:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Treatments:
Betadex