Developing life-changing gene therapies


Homozygous familial hypercholesterolemia (HoFH) occurs when people inherit an abnormal copy of the low-density lipoprotein receptor (LDLR) gene from each of their parents.

Individuals with HoFH have very low levels or are completely missing LDLR, resulting in high levels of low-density lipoprotein cholesterol (LDLC) in the blood.

High levels of LDLC (or “bad” cholesterol) are associated with premature and aggressive buildup of plaque in arteries, life-threatening coronary artery disease and an increase in the risk of a heart attack or stroke. If untreated, individuals with HoFH can suffer serious cardiac events before the age of 30. Current treatments do not provide a cure and may not lower cholesterol to optimal levels.

Our investigational therapy, RGX-501, is designed to deliver a functional (healthy) copy of the LDLR gene to cells using the AAV8 vector. It is given by a short, intravenous injection that is expected to travel to the liver. Once the AAV8 vector reaches the liver, it is intended to deliver the functional gene to liver cells, enabling these cells to make the LDLR protein they need. The liver is then expected to capture and remove LDLC from the blood to prevent buildup.

Adult subjects are being recruited for a Phase I/II clinical trial of RGX-501 for the treatment of HoFH. To learn more about the study, contact us or visit clinicaltrials.gov.

Download brochure on gene therapy in HoFH

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