Familial Hypercholesterolemia (FH)
Clinical Trials Update
Results of FH Foundation Survey on Clinical Trials and Gene Therapy

Clinical trials are research studies designed to test whether a medical intervention, treatment, or device is safe and effective. The success of clinical trials and the potential availability of new treatments for familial hypercholesterolemia (FH) depend on the participation of affected individuals.

There are currently at least nine potential treatments specifically being studied in people with FH. These studies include one on gene therapy for homozygous FH underway at the University of Pennsylvania, which was the subject of a survey the FH Foundation conducted in January. The FH Foundation would like to thank everyone who responded to the survey! 

We had 254 responses, of which 10% were from people who have Homozygous FH. The survey showed:
  • individuals with FH may not be aware of clinical trials for which they might qualify;
  • two-thirds of those who responded had never discussed participating in a clinical trial with their doctor.
  • Interestingly, the number was reversed for homozygous FH, with 65% having discussed clinical trials with their doctor.

Even so, only 22% of survey respondents had ever participated in a clinical trial , whether they were diagnosed with heterozygous or homozygous FH.

Principle reasons for not participating in clinical trials included not being aware of trials, concerns about safety, and being satisfied with current treatment.

FH Foundation's Cat Davis Ahmed, VP of Policy and Outreach addresses these and other concerns here .
The FH Foundation Begins Enrollment in PAGENT Study to Improve Understanding of Genetic Testing for familial hypercholesterolemia (FH)
 
The FH Foundation has announced a new research study that aims to understand the willingness for individuals with a clinical diagnosis of familial hypercholesterolemia (FH) and their family members to undergo confirmatory genetic testing through a partnership with Color Genomics. The Patient Acceptance of Genetic Testing (PAGENT) study will offer individuals with FH enrolled in the FH Foundation’s CASCADE FH® Registry Patient Porta l access to complimentary genetic testing and genetic counseling. Patients who carry the FH gene are more likely to have heart disease at any level of cholesterol because of lifelong exposure to high cholesterol. Genetic testing allows cascade screening of family members and could help identify many more individuals with FH to ensure early treatment to prevent heart disease.
Enrollment in the CASCADE FH® Registry Patient Portal is easy and will only take 10-15 minutes of your time. It is important to note that you can be registered in both the clinical registry at a CASCADE FH site, and the Patient Portal. In fact, they both provide scientists with different but important information about the care and treatment of FH.  Click to watch this video to see what FH Foundation Board of Director, Michael Shapiro, DO, has to say about joining the CASCADE FH Registry.
For more information or to get help enrolling, please contact FHregistry@theFHfoundation.org .
Familial Hypercholesterolemia Clinical Studies
Did you know you can search clinical studies on the FH Foundation website?
Highlight of Clinical Trials for FH

  • Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Homozygous Familial Hypercholesterolemia (HoFH) - Click to view

  • Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia - Click to view

  • An 8-Week Dose-Finding Study to Evaluate the Efficacy and Safety of Alirocumab in Children and Adolescents With Heterozygous Familial Hypercholesterolemia - Click to view

  • Trial Assessing Efficacy, Safety and Tolerability of PCSK9 Inhibition in Paediatric Subjects With Genetic LDL Disorders - Click to view

  • A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH) - Click to view

Click below to access more current listings of interventional studies recruiting participants.
FH & Pregnancy: Learn how you can help other moms and babies through research:
MotherToBaby is currently enrolling women in their observational High Cholesterol and Pregnancy study . You may qualify for the study if you have FH, are pregnant, and currently reside in the U.S. or Canada. The study is observational; you will not be asked to travel or make any changes to your healthcare routine, including your medications .