Although people living with familial hypercholesterolemia (FH) continue to work for increased awareness about this disease, it is an exciting time for those who are living with it.
According to Heart UK, most people living with the disease are treated with Rosuvastatin or Atorvastatin. Additionally, healthy diet and healthy lifestyle are encouraged to manage LDL levels; however, they note that the treatment is usually lifelong. Continued research is being done on familial hypercholesterolemia treatment for those who do not respond well to conventional methods, such as people with the rarer and more severe type, homozygous familial hypercholesterolemia.
Recently, there have been some great advances in the treatment options for people coping with the disease. In 2015, two drugs from a promising new class of medications called PCSK9 inhibitors were approved by the Food and Drug Administration: evolocumab (Repatha) and alirocumab (Praluent).
Both medications were approved specifically for heterozygous FH as an injection in addition to a statin, while evolocumab also approved for homozygous FH. Also recently approved is a new pediatric treatment for homozygous FH. Rosuvastatin (Crestor)’s indication was expanded to include treatment for patients seven to 17 years of age.
“Research is to see what everybody else has seen, and think what nobody has thought.” Dr. Albert Szent-Gyorgyi, Nobel Prize winner
More is on its way for FH treatments, including new drugs and an innovative gene therapy. For those with Homozygous FH, there is a strong need for participants in several clinical trials. The following clinical trials are currently open.
Familial Hypercholesterolemia Studies Currently Enrolling:
ALN-PCSSC: To evaluate the efficacy, safety, and tolerability of ALN PCSSC injection(s).
Homozygous FH Studies Currently Enrolling:
Gemcabene: Blocks triglyceride and cholesterol synthesis and enhances VLDL-C clearance. This is a once-a-day oral therapy.
AAV directed hLDLR gene therapy: To functionally replace the defective LDLR via AAV-based liver-directed gene therapy to improve response to current lipid-lowering treatments.
REGN1500 (evinacumab): A monoclonal antibody to angiopoietin-like protein 3 (ANGPTL3), which appears to play a central role in lipoprotein metabolism. This is an injectable therapy.
Pediatric FH studies Not Currently Enrolling:
Evolocumab (AMG 145): A monoclonal antibody PCSK9 inhibitor (approved for adults with Heterozygous and Homozygous FH). Study is in pediatric HeFH and HoFH patients.
Lomitapide: Inhibits the function of microsomal triglyceride transfer protein (MTP) (approved for adults with Homozygous FH). Study is in pediatric HoFH patients.
Clinical trial information was found at Clinicaltrials.gov. Drug summaries were found at this blog post. Information on treatment was also gathered from the Heart UK website.
