Celebrating a turning point for congenital erythropoietic porphyria

When my son Brady was diagnosed with erythropoietic protoporphyria in 2009, I had no idea that my extended family would grow to include so many people affected by all types of porphyria. Over the years, I’ve learned more than I ever imagined about these diseases, as well as the resilience and strength of those I walk beside in this community.

Through my work with the United Porphyrias Association (UPA), I’ve seen time and again how much can be accomplished when patients, caregivers, clinicians, and researchers join forces. But the past week has been a stunner.

There are countless projects on my desk that I could write about: UPA’s upcoming International Porphyrias Symposium, the Patient and Family Conference, webinars, educational events, and countless stories and journeys that cross my path. But my heart is pulled in a different direction because two extraordinary things recently happened for people with one of the rarest types of porphyria: congenital erythropoietic porphyria (CEP). Moments like these capture exactly why this work matters.

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The impact of living with CEP is profound. Patients experience severe blistering and skin fragility with even the smallest exposure to sunlight or certain kinds of indoor lighting. These wounds can lead to infections, scarring, and the gradual loss of cartilage, sometimes called photomutilation.

The description is clinical, but the reality is deeply human. My friends with CEP are just like you and me — they work, raise families, pursue hobbies, and dream about the future. But they must do all of this while carefully guarding themselves from light, knowing that a few minutes of exposure could mean another painful blister or permanent damage.

The landscape in CEP has lacked research and focus. There has been nothing — no treatments, no therapies, no protection beyond avoidance and adaptation. Nothing that offered real hope for change.

Until now.

An important meeting and a clinical trial

Firstly, in coordination with the U.S. Food and Drug Administration (FDA), UPA has secured an Externally Led Patient-Focused Drug Development meeting dedicated to CEP. At this meeting, patients and caregivers will share their lived experiences directly with FDA representatives, highlighting the daily burden of this disease, the absence of treatment options, and hopes for the future. Their voices will not just be heard in the moment; they will be recorded, published on the FDA website, and read by the reviewers who will one day evaluate potential therapies for CEP.

Think about that. A patient community that is so often invisible will now be on record forever. Their journeys will officially be part of the regulatory process.

And, drumroll …

Secondly, the FDA awarded nearly $2.6 million over four years to fund the first-ever clinical trial in CEP. The grant was awarded to the Icahn School of Medicine at Mount Sinai in New York City, where Robert J. Desnick, MD, will lead the study. The trial will investigate whether oral ciclopirox, a medication already approved to treat other conditions, can reduce photosensitivity and skin lesions in adults with CEP.

Just seeing those words — “first clinical trial in CEP” — is historic. After years of watching families manage this condition with no therapeutic options, it feels monumental for researchers, the FDA, and the scientific community to align around this work.

Why this matters

This development matters because nothing moves the needle in the world of rare disease like patient-centric research.

These patients are my friends and my extended family. I’ve held their stories close to my heart for years, and I feel so thrilled that there is a glimmer of hope. And sometimes, even a slight glimmer can turn into reality.

Of course, we know the path of drug development is long and often uncertain. An investigational therapy is just that — investigational — and no one can predict where the research will lead. But I know this: Researchers, scientists, and industry partners are paying attention. And so are we.

I am grateful every day that my son’s diagnosis and journey opened our eyes and hearts to an extended porphyria family — our “porphamily,” as it has lovingly become known. For one of the smallest corners of our extended family to have new hope means everything.

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.