How the Common Language of Porphyria Unites Patients and Researchers

A recent porphyria conference helps further understanding of the disease

Kristen Wheeden avatar

by Kristen Wheeden |

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Last week was a big deal in the world of porphyria. Some of the most brilliant minds met at the International Congress on Porphyrins and Porphyrias (ICPP) in Sofia, Bulgaria, to share their knowledge and discuss novel research. With many of the strict COVID-19 limitations lifted, researchers were finally able to share their recent work in person.

The excitement was palpable as the experts presented and discussed their findings. The mix of languages and accents was fascinating, with the common “language” being porphyria. We all shared the goal of better diagnosing, understanding, and treating the porphyrias.

The conference was personal for me, as the disease affects my youngest son, Brady, who was diagnosed with erythropoietic protoporphyria (EPP) in 2009. My interest was also professional, as I lead the United Porphyrias Association (UPA), a U.S.-based patient advocacy organization. UPA envisions a world without the pain and challenges of porphyria, and this year’s conference brought us one step closer to that dream.

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The highlights

ICPP features various presentations and meetings as well as multiple perspectives from the porphyria community.

Basic and translational researchers kicked things off by offering granular details about heme synthesis and other observations at the cellular level. I’m always convinced that the words I don’t understand are the ones that will eventually play a role in curing porphyria. I hear, “Thank you for having me. It’s an honor to present about [scientific terms].” I listen for nuggets and learn something every time.

Clinicians then reported on investigator-initiated studies, in which researchers both conceive of the studies and lead the clinical trials. Many clinicians also presented fascinating case studies, while industry collaborators shared study results or updates on investigational therapies.

Prior to the conference, authors were invited to submit abstracts for presentation, which were evaluated by a committee of porphyria experts. Authors whose abstracts were approved either gave an oral presentation or a poster session, which were interspersed throughout the general program. Abstracts are typically submitted by young investigators and supported by seasoned ones.

For example, Vivek Rudrapatna, MD, PhD, a physician-scientist who specializes in gastroenterology at the University of California, San Francisco, gave a presentation about artificial intelligence and predictive testing, which could mitigate the significant delay in diagnosing acute porphyria.

Amy Dickey, MD, MSC, a physician at Massachusetts General Hospital, presented a study about a wearable device that can help EPP patients manage sun exposure and hopefully control their symptoms. The device will be studied in an upcoming clinical trial. Notably, Dickey is also a patient who lives with EPP.

Role reversal

Then there was Patient Day, where patient organization leaders, patients, and caregivers joined together for a day of sharing, caring, and learning from one another. The event was livestreamed so that anyone across the globe could join, though it took place in the middle of the night for most people in the U.S. I was honored to help organize the day and seek funding support.

A highlight of Patient Day was a role-reversal session, in which patients formed the expert panel and medical students asked questions to better understand the disease.

Outside the conference center was a bustling Sofia. This lovely city is nestled in the mountains, with beautiful green parks full of fountains and sculptures, and churches and cathedrals that boast magnificent architecture. Sofia is accessible by walking and rich in history.

The conference took place over Unification Day, a national holiday observed on Sept. 6, which commemorates the unification of Eastern Rumelia and Bulgaria in 1885. I took it as synchronicity that the unification of patients, researchers, and clinicians overlapped with the Bulgarian holiday.

It’s likely that the most significant discussions weren’t planned or listed in the programs. New collaborations, friendships, ideas, and concepts were forming in each hallway and during each meal.

I arrived home inspired — and a bit tired! I envision the researchers returning to their labs, and the clinicians to their offices and patients. I anticipate all the presentations and posters that will be featured at ICPP 2024, which is set to take place in Pamplona, Spain.


Note: Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Porphyria News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to porphyria.

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