Results of Family Heart 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 FH depend on the participation of individuals with familial hypercholesterolemia (FH), including HoFH, in the US and around the world.

There are currently at least nine potential treatments specifically being studied in people with FH, including a study of gene therapy for homozygous FH being conducted at the University of Pennsylvania that was the subject of a survey the Family Heart Foundation conducted in January. the Family Heart Foundation would like to thank everyone who responded to survey!

Click image to enlarge
Click image to enlarge

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.

Here are some answers to questions about clinical trials raised by survey respondents:

Who pays?
The Affordable Care Act ensures that health plans have to pay for the routine care costs of patients who participate in clinical trials for the prevention, detection, and treatment of life-threatening conditions. Routine patient care refers to the range of medical services people with a particular diagnosis might need, including treatment for side effects and other medical issues that might arise as a result of the trial. However, plans do not have to pay for: 1) the actual clinical trial or the investigational item, service or device itself; 2) items and services that are provided solely for data collection and analysis and that are not used in the direct clinical management of the patient; or 3) a service that is clearly inconsistent with widely accepted and established standards of care for a particular diagnosis. Those costs are covered by the clinical trial sponsor.

How Does It Work?
Each trial has eligibility criteria that participants have to meet to enroll. It can be worthwhile to explore what the criteria are. You might think you don’t qualify because of the treatments you are currently taking (and that you don’t want to give up), but don’t rule it out until you see what is allowed according to the criteria.

There are “inclusion criteria” and “exclusion criteria.” Inclusion criteria are those factors that qualify you, while exclusion criteria would prevent you from participating. Examples of eligibility criteria might include:
  • Age (adult or pediatric)
  • Diagnosis (Heterozygous FH, Homozygous FH)
  • Current treatments (statins, PCSK9 inhibitors, LDL apheresis, lomitapide)
  • Cardiovascular disease (history of heart attack, unstable angina, coronary artery bypass, stent)
  • Other risk factors (eg. diabetes, high triglycerides)
All clinical trials involve some form of risk, but patient safety is the priority. There are ethical and legal codes governing medical practice that guide clinical trials. An Institutional Review Board (IRB) approves and monitors every clinical trial in the US to ensure that the risks are as low as they can be, that the risks outweigh potential benefits, and that participants’ rights, including privacy, are protected. Other countries have similar review boards and regulators.

Clinical trials are carefully designed, and follow a detailed protocol. As a clinical trial proceeds, the researchers report the results to government agencies. If a participant decides he or she does not want to continue in the trial, he or she can withdraw at any time.

If you would like to know more about a clinical trial, email or call the Clinical Trial contact listed on the study page on They will be able to give you details about eligibility criteria, the duration of the trial, how much time will be involved, where it is being conducted, and much more. You can also ask your healthcare provider to look into clinical trials you might be eligible for. If you need help, contact the Family Heart Foundation at

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