The Importance of Patient Education for Rare Disease Trials
Derek Ansel
Derek Ansel
Clinical Scientist, Rare Diseases

Patient education remains a critical and often forgotten factor in rare disease clinical trials. Line items in trial budgets for activities such as patient engagement, involvement, and education are often labeled as “nice to have,” meaning that they are usually the first to be removed in an attempt to reduce the cost of the overall budget. However, when traditional methods fail, it is often too late and costly to initiate innovative strategies to find, educate, and retain patients.

Our Derek Ansel presented a talk earlier this year on “The Critical Piece in Rare Disease Trials” at the MAGI Clinical Research Conference in Arlington, VA. Here, he shares his thoughts on this topic:

The responsibilities of patient education fall to the site, sponsor, contract research organization, and patient advocacy groups, among others. Each group has a responsibility to ensure that patients understand the research, risks, benefits, regulations, and technology of the drug candidate.

For many patients with rare diseases, clinical trials act in the place of standard of care, and require a more collaborative effort to ensure that patients are properly educated.

Consider an example from a gene therapy study where many potential risks exist in patient education:

01 informed consent02

The traditional methods of Informed Consent are not flexible enough for such a fast-moving drug technology such as gene therapy. With many patients not experienced with this technology, the informed consent form almost resembles a piece of science fiction. Although efforts are underway to develop patient education materials for gene therapy, the field is moving so rapidly that it will be challenging to maintain them.

Informed Consent Process

Technology exists to provide patients with age-appropriate material that can supplement the traditional method of signing an informed consent form. The informed consent form should not be the only practice of patient education existing on a gene therapy trial. Study-branded videos, websites, paper handouts can all be used to explain the purpose of the clinical trial, risks and benefits, and the mechanisms of gene therapy.

02 cure

With the dramatic success already seen with gene therapy technology, it is easy to assume how these therapies can cure even the most severe and debilitating of rare diseases. As with any successful and unbiases informed consent process, care must be taken to not overpromise the potential benefits of a gene therapy trial.


Sponsors should continue utilizing transparent practices to ensure that clinical trial result data are available to patients in a timely fashion. For many patients with a rare disease, clinical trials are their standard of care and they have a right to know the potential risks and benefits regarding their participation. Patient advocacy groups can pair with sponsors to review non-technical summaries to confirm general patient review and understanding.

03 15 year

For the United States, patients participating in gene therapy trials are required to be followed for 15 years after infusion. Patients need to be aware of the requirement and how their involvement in the study will contribute to quality safety data. However, it can be concerning for a patient to be assessed for 15 years after receiving a potential “cure” (see above).

15-year Follow-Up

The burden of patient education should not fall to the site. Materials and tools must be made available from all partners in the drug discovery process to ensure that patients understand the regulatory rules and how their participation can potentially benefit others. The industry must understand possible patient dropout rates during the 15-year safety follow-up if gene therapy is described as a cure.

04 lack of risk

Gene therapy has progressed at such an accelerated rate that more than one drug candidate exists for rare disease patients. Many gene therapy trials exclude patients if they have previously participated in other gene therapy trials and would be ineligible to participate in another study if their current study is not efficacious. For many non-rare diseases, patients have multiple options for their care and with their physicians, can assess which option is best. When rare disease patients rely on clinical trials for standard of care, that careful risk assessment is often missing.

Lack of Risk Assessment

All patients have the right to understand the risks and benefits of taking any medication and clinical trials should be no different. Partners in the drug discovery process have a direct impact in helping patients understand the potential efficacy of a drug candidate and the positive changes to quality of life, if applicable. As sponsors become more transparent with clinical trial results, sites and patient advocacy groups can ensure that patients are well informed regarding gene therapy candidates.

05 total

When it comes to properly educating patients on a clinical trial for a rare disease, the most successful approach is not a “one-size fits all” method. As the industry aspires to create more patient-centric trials, educating patients on the importance of clinical trials can have a direct and positive impact on engagement and retention.

Derek Ansel is a Clinical Scientist of Rare Diseases at PRA Health Sciences. He’s a co-leader of the Gene Therapy Working Group which supports drug development partners and PRA internal research teams when planning and conducting a trial using an advanced therapeutic.

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