The potential of patient initiated research in studying rare diseases

Identifying and recruiting study participants with rare and under-diagnosed conditions such as spontaneous coronary artery dissection (SCAD) can be a formidable challenge because no single medical center, even my own organization, Mayo Clinic, has adequate experience and/or patient volume to even begin to perform meaningful research. Still in its infancy, “patient-initiated” research may prove to be the new gold standard for the study of uncommon medical conditions.

The people most highly motivated to support or to even initiate investigations of a rare condition are those personally affected and their close relatives. SCAD has proven to be one of those “motivators.” SCAD is defined as a sudden tear of one of the layers of the coronary arteries that usually results in heart attack and can be fatal. It is unusual in that it disproportionately affects healthy young women who have no risk factors for heart disease and those who are pregnant or have recently given birth. Genetic, hormonal, and other influences are likely, but poorly understood.

This partnership provides an example of successful patient-driven, social networking–enabled research. Our research team’s success in conceiving, piloting, refining, obtaining funding and recruiting for SCAD research, including the development of a DNA biobank for future genetic investigations at Mayo Clinic, could not and would not have transpired without the active and ongoing participation and support of “SCAD ladies,” Katherine Leon and Laura Haywood-Cory, and their fellow “heart sisters” who found each other in an online support group. The SCAD patient community continues to be our most effective recruiters and promoters. Our experience demonstrates that if a large organized group of patients self-identify and present themselves to researchers as study participants, at least two major barriers to rare disease research–the high costs of case finding and prohibitions on investigators related to patient recruitment–can be eliminated. In fact, through this mechanism, Mayo Clinic SCAD research participants now hale from every continent except Antarctica!

Patients grow tired of hearing how little is known and how “unique” and “unusual” they are (Katherine recalls being told she was a “fluke”), and those with sometimes fatal conditions are often frightened by the seeming “shotgun” or inconsistent approach to management and the explicit and implicit messages that their health care professionals have “no data” to guide treatment recommendations. Patients with rare diseases therefore increasingly seek answers, medical information, and peer support on the Internet. There, they may form research networks unencumbered by the regulatory limitations placed on physicians, such as HIPPA and IRB rules.

My colleagues and I at Mayo Clinic feel indebted to the “SCAD Ladies” on many levels. As a physician, I see how difficult it can be for patients to live with a disease; it’s hard work. I also was amazed and inspired by these women who found the energy and time to focus on the possibilities of research for their disease.

Perhaps even more gratifying is the explosion of interest in our methods among both colleagues and other patient groups who hope to leverage the power of the patient to advance the science for other conditions. While a more formal multicenter registry and prospective clinical trials will ultimately be necessary to fully understand SCAD, this unique model involving self-organized patients provides an excellent option for a virtual multicenter registry and an option for other patient-investigator partners to consider. Our early findings already have generated new hypotheses that will be the source of future scientific inquiry for this condition. Additionally, several observations have had a direct impact on how we care for both new and long term SCAD patients. I have every reason to believe this can be successfully translated to study other conditions and have already been contacted by several patient advocacy groups who want insight into how they might spur investigators to research THEIR condition.

It is evident that social networking tools can catalyze community action and that the energy and commitment of affected patients can overcome inertia and ignite excitement and commitment to new research. The singular motivation and focus of patients with little-understood conditions, combined with the natural organizing framework in a social networking site, may significantly improve the timeliness and cost-effectiveness of research in these conditions.

We hope that our experience with these empowered and activated women can serve as a model for other patient groups and scientists and that it will be replicated to study and propel medical advances in other uncommon conditions that may not otherwise be subjects of active investigation by the medical community. More power to the patients!

Sharonne N. Hayes is Associate Professor of Medicine and Cardiovascular Diseases, Founder of the Women’s Heart Clinic, and Director of Diversity and Inclusion, Mayo Clinic. This column is based on a foreword that Dr. Hayes wrote for an online report, “The SCAD Ladies Stand Up: Stories of Patient Empowerment” created by Inspire

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