- 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.
- To test the safety and effectiveness of HPBCD for NPC1.
- 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.
- 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.