Intravenous ACP-501 for Familial LCAT Deficiency (rhLCAT)
Background:
* High density lipoprotein (HDL), or good cholesterol, moves cholesterol from the artery walls back to the liver. A blood enzyme known as LCAT maintains HDL levels and helps it remove cholesterol from the body. Familial LCAT deficiency (FLD) is a genetic disease that results in low levels or total absence of LCAT. People with FLD often have kidney problems, and may develop kidney failure. Researchers think that the clinical problems of FLD can be prevented or even reversed by replacing the defective enzyme.
* There are no drugs that increase LCAT. It has to be artificially made and infused into the body. The artificial LCAT is called recombinant human LCAT, or ACP-501. Researchers want to see how well it works in one person with FLD and poor kidney function.
Objectives:
\- To see whether ACP-501 can improve the symptoms of FLD.
Eligibility:
\- One person (the study participant) with FLD.
Design:
* The participant will be screened with a physical exam and medical history. Blood samples will be collected.
* The participant will receive ACP-501 and remain in the hospital for 24 hours for regular blood tests. The participant may stay in the hospital or return for daily clinic visits until it is time for the next dose. The second dose will be given on Day 4 or Day 8.
* If an optimal dose has not yet been identified, a third dose will be given 7 days after the second dose.
* The participant will then go home, but must return to the hospital for ACP-501 infusions and blood tests every 1 or 2 weeks, as needed. Every 3 months, the participant will have a full clinic visit with blood tests and other studies.
Gender: All
Ages: 18 Years - 100 Years
