Editor’s Note: For more on patient advocacy groups, like the Porphyria Research Consortium, check out our AM Last Page, entitled “Realizing the Potential of Patient Organizations in Translational Research—Delivering Treatments for Rare Diseases.“

By: Desiree Lyon Howe, executive director, American Porphyria Foundation

The American Porphyria Foundation (APF) has been instrumental in facilitating porphyria research for over thirty years. The porphyrias are a group of disorders caused by enzyme deficiencies in the heme biosynthetic pathway that affect the Central Nervous System and/or the skin. The collaborative relationship we enjoy with our Scientific Advisory Board is vital to the success of our research projects. This relationship became even more productive when we formed the Porphyria Research Consortium with these porphyria experts. The Consortium is now funded by the National Institutes of Health Rare Disease Clinical Network.

The success of this partnership was evident during the recent Afamelnotide clinical trials. In only one month, we located and registered 90 Erythropoietic Protoporphyria patients for the Phase II trials and 100 more patients for the Phase III trials. This unprecedented accomplishment was achievable because we maintain a well-developed research strategy that includes the Consortium in every step. Their participation, in turn, substantiates our research efforts and gives credibility to the medical information we publish. Such research and educational validation is important to gain the respect of primary care physicians.

Together, we and the Consortium created the National Porphyria Research Registry as a source of research patients and a means to determine incidence. Prior to the initiation of research projects, we prepare patients by educating them on the value and process of clinical trials, introducing them to the researchers, and encouraging them to join the Registry. We reduce patients’ fears and provide reassurance about the Registry, clinical trials, the expertise of the researchers, and the merit of the research by publishing articles on our website, in our newsletters, and on social media, (e.g., Facebook, Twitter, and blogs). We use these same methods to tout former research patient volunteers, who by sharing their experience, increase the number of future research volunteers.

Researchers in turn assist us by preparing the clinical trials announcements for patients and physicians, which we then distribute via our vast database. Another unique and successful collaboration occurs at our patient education meetings held around the country, during which we locate and register research participants. Three to five experts volunteer for these gatherings to make presentations, answer questions, register patients for their research, and often collect DNA samples.

Also important to our research efforts are the young physicians who participate in the Protect the Future (PTF) program, an APF-supported, mentor project to train the next generation of porphyria experts. The Consortium educates these physicians so they become well versed in both the clinical and basic sciences of the porphyrias and become ready to take on the role of future academic leaders in the field. As part of their training, PTF physicians also conduct mentored research and serve as clinicians at our “satellite clinics” where patients are given the rare opportunity to meet with a physician with porphyria expertise. In turn, at these clinics, PTF physicians interact with a new pool of research participants.

Our synergistic relationship with our Scientific Advisory Board of experts is key to the success of our research programs.