What’s on the Horizon for HoFH Treatment

Promising Developments and Clinical Trials

This is a promising time for all who live with familial hypercholesterolemia, but it is perhaps especially important for those in our community who live with the most severe form of this life-threatening genetic condition – Homozygous FH (HoFH). The past 5 years have ushered in a new era of incredible hope for the management of HoFH. The Food and Drug Administration approved two treatments for Homozygous FH: lomitapide (Juxtapid) in 2012 and mipomersen (Kynamro) in 2013. In 2015, the FDA approved two drugs in a promising new class of treatments known as PCSK9 inhibitors: evolocumab (Repatha) and alirocumab (Praluent). Both were specifically approved for Heterozygous FH, with evolocumab also approved for Homozygous FH. Rosuvastatin (Crestor) received FDA supplemental approval in 2016 for a new indication for treatment of pediatric patients 7 to 17 years of age with homozygous familial hypercholesterolemia (HoFH).

“Individuals who step forward to participate in research are vital to the scientific process and the search for more therapies.”

– Katherine Wilemon, Founder and CEO, Family Heart Foundation
There is more on the horizon for FH, including several new drugs in development for Homozygous FH, as well as a novel gene therapy, that are actively recruiting for clinical trials. Because HoFH is rare, it is especially difficult to find enough HoFH patients to enroll in clinical trials – these studies are looking for participants.
Homozygous FH Studies Currently Enrolling for Clinical Trials
  Gemcabene: Blocks triglyceride and cholesterol synthesis and enhances VLDL-C clearance. This is a once-a-day oral therapy. https://clinicaltrials.gov/ct2/show/NCT02722408?term=gemcabene&rank=4 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. https://clinicaltrials.gov/ct2/show/NCT02265952?term=regn+1500&rank=1 RGX-501: A potential new gene therapy for Homozygous FH targeting the LDL Receptor gene. https://clinicaltrials.gov/ct2/show/NCT02651675?term=gene+therapy&rank=10
Pediatric HoFH Studies – Not Yet Recruiting
  Evolocumab (AMG 145): A monoclonal antibody PCSK9 inhibitor (approved for adults with Heterozygous and Homozygous FH). Study is in pediatric HeFH and HoFH patients. https://clinicaltrials.gov/ct2/show/NCT02624869?term=evolocumab&recr=Open&rank=4 Lomitapide: Inhibits the function of microsomal triglyceride transfer protein (MTP) (approved for adults with Homozygous FH). Study is in pediatric HoFH patients. https://clinicaltrials.gov/ct2/show/NCT02765841?term=lomitapide&recr=Open&rank=1 This is a partial list from ClincicalTrials.gov, focused on Homozygous FH. the Family Heart Foundation is deeply committed to empowering individuals with all forms of FH to have the most accurate and extensive knowledge about their condition, options for management, and ongoing research. the Family Heart Foundation is not involved in any of these studies and this message does not imply endorsement of any study by the Family Heart Foundation. We are sharing this information with you in an effort to keep you informed about ongoing FH research opportunities. The decision to participate in a clinical trial is an important one that you should discuss with your doctor and family members. Click here to sign up for periodic updates delivered to you by email from the Family Heart Foundation about clinical research opportunities that are most relevant for those living with all forms of FH. Visit https://familyheart.org/fh-research/clinical-trials/ to search for yourself.  

Leave a Reply