October UPDATE

Dear Friend,

What a month! We kicked off October by bringing porphyria experts, patients and families together from around the world, and we are still buzzing from getting to see so many of you in person.

We're thrilled to share the updates in this month's eNews, including:

• UPA merch store is now open! Help raise awareness and support the community!
• Treatment updates for EPP: Two potential EPP treatments are recognized by the FDA
• New education and connection opportunities: Webinars, Facebook Live Q&A, and ConnectUP meetings
• Milestone CEP meeting and follow up report: You're invited to contribute
• Patient & Family Conference and International Porphyrias Symposium: Recap and memories
• Sun Escape 2026: Applications now open!
• UPA in the Community: Raising porphyria awareness in the community
• Patient stories: Katri and Erin's stories
• Research opportunities: Get involved in porphyria research

October 2025 memories

Hoping you have a wonderful Halloween with plenty of rescue foods, cozy dark rooms, and costumes that make covering up easy.

Warmly,

The UPA Team

PS. What do you say when you catch a ghost? ( Read to the bottom to find out!)

Raise porphyria awareness and support your porphyria community!

Check off your holiday list and give back to the porphyria community with every purchase.

UPA's online store is now open! We are kicking off with a curated selection of accessories, small items and clothing including:

• Heme patterned scarves, ties and pocket squares
• Hats
• Water bottles
• Stickers
• .... and the preorder for Porphy, of course

Have an item you'd love to see? Send your ideas to info@porphyria.org

Meet Porphy: Now Pre-Ordering!

Porphy was born from a wish - a quiet hope whispered by the porphyria community: “I wish I didn’t have to go through this alone.” And from that wish, Porphy came to life.

Porphy is there when others can’t be. To listen when words are hard. To comfort when courage runs low.

And to remind you, always: You are not alone 🫂

Our snuggly new friend made his debut at the Patient & Family conference and now you can have a Porphy of your very own. Pre-orders for full size and keychain Porphy stuffies are now available in the UPA store- expected ship date is December 1!

Disc Medicine recieves FDA Commissioner's National Priority Voucher for bitopertin. We need to hear from you!

Bitopertin for EPP and XLP was recently given a Commissioner's National Priority Voucher. The voucher expedites the FDA review process for new treatments to 1-2 months. This is great news for our community and signals that EPP/XLP treatment is a national priority!

United Porphyrias Association wants to ensure that patients and caregivers' voice are considered in the review process. Please share your experiences with EPP/XLP in this quick survey.

Portal Therapeutics receives Orphan Drug and Fast Track Designations for PORT-77

Last week Portal Therapeutics announced that the FDA has granted Orphan Drug and Fast Track Designations, for PORT-77, an oral, small molecule ABCG2 inhibitor, for the treatment of EPP & XLP. In pre-clinical and Phase 1 studies, PORT-77 demonstrated the ability to significantly lower plasma PPIX, which has the potential to address both the skin and liver impacts of EPP and XLP!

Read the press release here.

What does it all mean?

In her latest Porphyria News column, UPA’s Kristen Wheeden unpacks the significance of recent updates on bitopertin, PORT-77, and Mitsubishi Tanabe Pharma’s dersimelagon (MT-7117).

Nearly 17 years ago, when my son Brady was diagnosed with erythropoietic protoporphyria (EPP), I fell to the floor in a puddle of fear. How would my little boy avoid the sun for the rest of his life?

There were no easy answers, and there certainly were no easy options. We learned to manage minute by minute, season by season.

As Brady grew up, we supported each other and learned to shout from the rooftops about this little-known disease that hurts so much, yet is seen so little.

Last week, something remarkable happened. (I know, I keep reporting remarkable things!)...more

Mind, Body & Nerves: Managing Daily Life 
with Acute Hepatic Porphyria

Chronic symptoms such as pain, weakness, numbness, insomnia, and fatigue can take a significant toll on daily life for those living with acute hepatic porphyria (AIP, HCP, VP, ADP).

Join neurologist and porphyria expert Dr. Mohamed Kazamel (Mayo Clinic) for an informative webinar that will explore: 

• Why chronic porphyria symptoms occur
• Current treatments that may help manage these symptoms
• Practical strategies to cope day-to-day

Following Dr. Kazamel’s presentation and Q&A, you’ll have the opportunity to share your own experiences, tips, and strategies and to help highlight the areas where more research and resources are urgently needed. 

• Date: Sunday, November 9, 2025
• Time: 6:00-7:00PM ET (find your local time here)
• Location: Zoom- register for link

Liver Transplants & Porphyria

A liver transplant is a complex procedure that carries both significant risks and potential benefits. For various reasons, patients with several types of porphyria- including AIP, CEP, EPP, HCP, VP, and XLP- may be considered for transplantation. 

Join us for an informative and insightful webinar exploring the science and realities of liver transplants in porphyria.

• Porphyria expert Dr. Amy Dickey, MGH, will discuss when a transplant may be considered, what the process involves, potential risks and outcomes, and life after surgery.
• You’ll also hear directly from patients who have undergone transplantation as they share their personal experiences and perspectives. 

A question and answer will follow the presentation.

• Date: Sunday, November 16, 2025
• Time: 6:00-7:00PM ET (find your local time here)
• Location: Zoom- register below for link

Facebook Live Q&A with Dr. Bruce Wang

Dr. Bruce Wang, Porphyria Expert from UCSF, will be taking your questions LIVE on our Porphyria Together Facebook group.

• Date: Saturday, November 15, 2025
• Time: 12:00pm ET (see your local time)
• Location: Porphyria Together Facebook Page, join now to participate 

Connect UPs are safe, friendly online meet ups where you can connect with others who understand what you're going through.

Parents of Photosensitive Kids

Hosted by Marianna and Megan

Topic: Navigating the holidays & light sensitivity

Date: Saturday, December at 6 PM ET

Location: Zoom- register for the link

Join the Connect UP mailing list for the next discussion topics and dates!

On October 14, UPA hosted a powerful CEP-focused meeting that was attended U.S. Food and Drug Administration

CEP Patient and Caregiver Panelists at the October 14 meeting.

"I’ve prayed for this moment for 24 years, for my daughter to have others to speak with about her disorder and to have hope for a cure or help from the medical community."



In an important milestone for the CEP community and rare disease advocacy, United Porphyrias Association hosted an Externally-Led Patient-Focused Drug Development (EL-PFDD) with the goal of providing the U.S. Food and Drug Administration (FDA) and other stakeholders an opportunity to hear perspectives from individuals with CEP on the health effects and daily impacts of their CEP and treatment goals.

CEP patients and family members joined us in-person and online from around the world, and brought to life the painful realities of living with congenital erythropoietic porphyria. Thank you to everyone who participated, together we can change the world for CEP 💜

"All these stories were very important to me. If my mother were alive, she would be very happy to know that I am not alone and she fought hard for my health."

Do you have a connection to CEP? We want to hear your voice!

The United Porphyrias Association is preparing a Voice of the Patient Report summarizing the issues and needs of CEP patients and families at the meeting. This report will be shared with the FDA and be publicly available.

If you or a loved one is impacted by CEP, anywhere in the world, we want to include your voice in this report. You can provide your thoughts here.

Thank you to Disc Medicine for their regulatory support of this meeting.

We loved seeing so many members of our Porphamily (porphyria family) for a weekend of connection, science and fun!

From sharing our stories, talking about the real issues that affect us- like mental health and building a care team- to letting our hair down at a dance party with the porphyria experts, we had an amazing time at this year's Patient & Family Conference at the International Porphyrias Symposium!

Check out this highlight reel of the weekend!

Some of our favorite moments:

• Hearing the stories of Katri, Randy, Colin and Ashley
• Finding out our Jeopardy game was so loud it interrupted the doctor's meeting next door 🤭
• Seeing everyone getting on to the dance floor on Saturday night
• Getting to spend every moment with this amazing community of people who just get it.

We can't wait to see you all again next year!

Your support made it possible for community members to attend!

Thank you to everyone who contributed to the Global Porphyria Day fundraiser in May. The proceeds from this fundraiser supported patients to travel IPS 2025 and the Patient & Family Conference!

Geri and Mayra at the 2025 Patient & Family Conference

From Geri, travel support recipient

Thanks to all who participated in making IPS 2025 a success. I especially appreciated the research and professional presentations.

In addition, meeting my Porphamily (porphyria patients and caregivers) was a blessing. Their stories and strength continue to inspire me, and I enjoy connecting and serving as an ambassador. It was an honor to share a small part of my story. I deeply appreciate the invitation and the support from the generous donors. Thank you so much!

From October 9-12, 2025 nearly 200 physicians, researchers, allied health professionals, industry partners, patients and caregivers attended the 2025 International Porphyrias Symposium!

The meeting included an introductory course on the porphyrias and heme biosynthesis, interviews with patients to provide the patient perspective, keynote speakers from the FDA and a Latin America rare disease leader, an afternoon dedicated to understanding and advancing porphyria care in Latin America, and cutting edge research.

We were excited to learn about:

• Custom gene editing technology that could be used to treat or even cure a whole range of genetic conditions, including porphyria
• Updates on potential new treatments for CEP, EPP & XLP
• Growing focus on the chronic and neurological symptoms of acute porphyrias
• Basic research that has the potential to unlock new treatments and improve our understanding of porphyria!
• Upcoming grants from the American Porphyrias Expert Collaborative to support emerging researchers to develop their expertise in porphyria!

Meetings like the International Porphyrias Symposium provide important opportunities for the scientific, medical and patient communities to connect and advance knowledge of the porphyrias, bringing us closer to a world free from the pain and challenges of porphyria!

Physician's Weekly Q&A Unpacks Porphyria and the Vampire Myths

UPA’s Kristen Wheeden joined Physician’s Weekly to debunk porphyria and vampire folklore, put “Mad King George” in context, and outline how providers can better care for cutaneous and acute porphyria patients.

I would say most often what I hear from people with all the porphyrias is “I just want to feel normal. I just want to be free from this disease.” They don’t want to think about this or experience this pain. So, bringing up the vampire stigma isn’t really the right path when people want to fit in, especially because this disease manifests in childhood. Read the full article.

UPA President Kristen Wheeden Earns EUPATI Fellowship

This month UPA President Kristen Wheeden has graduated from the EUPATI Patient Expert Training Programme, becoming an official EUPATI Fellow.

The year-long programme educates and empowers patients and representatives to contribute meaningfully to medicines research, regulation, and policy. Through this training, Kristen joined an international cohort of advocates committed to advancing patient-centred science and collaboration and deepened her understanding of how patient communities can shape research and treatment pathways, ensuring lived experience informs innovation.

Kristen looks forward to applying her knowledge in UPA’s ongoing work to strengthen patient engagement across the research and development process!

UPA to Raise Awareness of Porphyrias at Major Medical Conferences

United Porphyrias Association will be raising awareness and sharing information on the diagnosis and treatment at two major medical conferences in the upcoming months.

American Association for the Study of Liver Diseases

November 8-10, 2025 in Washington, DC

American Society of Hematology

December 5-8, 2025 in Orlando, FL

If you are attending, please stop by! (And tell your doctor we want to see them too!)

Join us Thursday April 30th to Sunday May 3rd for our epic sun safe camp experience at Victory Junction in North Carolina!

We’re so happy to be back for the third year of one of our favorite weekends - a time to connect, relax, and make memories together. Every activity is planned with sun safety in mind. Families can look forward to archery, horseback riding, ziplining, fishing, a petting zoo, swimming in the outdoor pool, and plenty of time to laugh, share, and bond with others in the community.

Shadow Jumpers and the United Porphyrias Association are accepting applications to fill our 32 family slots and 40+ volunteer positions. Deadline to apply is December 6, 2025.

Families must have a photosensitive child between the ages of 6-16. Volunteers must have a photosensitive condition themselves or be personally connected to one. Space is limited, not all families and volunteers will be accepted.

Accommodations, meals and all activities are at no cost to families and volunteers! Camp families qualify for 100% reimbursement of their travel expenses to and from camp while our volunteers can receive up $500-$600 in travel stipends.

Did you know that most of the UPA team has a personal connection to porphyria? Here are some of their stories.

Meet Katri, AIP Warrior & UPA Director of Community Engagement

"I use my story and my strength to reach out to others walking this same difficult path, because no one should ever feel alone in their fight against porphyria."

One of those things you never imagine would happen to you… and it happened, and there was no turning back.

I was a normal girl, studying at university, with dreams ahead and a whole life to live. Then, suddenly, in 2012, I began experiencing inexplicable pain. An abdominal pain that wouldn’t go away, like being constantly stabbed, mercilessly (later my doctor told me it was worse than labor pain). And not only that, general discomfort, tachycardia, anxiety, insomnia, nausea, and vomiting... I could go on for hours trying to explain what it felt like at that moment.

That year, I started taking birth control pills. Sounds normal, right? Every woman takes birth control at some point in her life, and it was my turn. What I didn’t know at that time is that those pills almost killed me. I had my first attack, was sent to the hospital, underwent countless tests, and my family was asked if I did drugs or suffered from depression because they couldn’t understand why all the tests came back normal and yet I was suffering.

Meet Erin, EPPer & UPA Patient Navigator

"I get to connect with people with porphyria and make the world literally brighter. I help patients get diagnosed, connect sufferers with porphyria specialists, and get people like me involved in drug trials that have impacted my life so deeply."

For as long as I can remember, the sun has hurt. Deeply, long lasting acid in my veins. My parents would take my sisters and me to the pool, and within 15 minutes I would be in pain and begging to go home. Even when my parents encouraged me to stay, and I would find a cooler shaded place, the sun would reflect off of the water and everything would get worse. There would be no bruising, no blisters, no signs of just how much pain I was in. 

We would go to see doctors, and the good ones would tell me "I'm so sorry, I don't know what's wrong." The bad ones would say that I was fussy, making it up for attention, and for my parents to ignore my behavior.

Want to share your story?

We're here to help! Fill out an interest form or reach out to our Community Engagement Team at info@porphyria.org.

Porphyria patients are at the center of all porphyria research! Your participation is essential to gaining a better understanding of porphyria, developing new treatments and improving diagnosis and care.

Phase 3 Clinical Trial of Bitopertin for EPP and XLP

Are you or your child 12 years or older and diagnosed with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP)? If so, an exciting study may be an option for you!

Disc Medicine is conducting the APOLLO Study to evaluate Bitopertin, an investigational oral medication designed to reduce protoporphyrin IX levels and potentially ease symptoms related to sun exposure.

Key Details:

• Participants needed at U.S. study sites- new sites are open in Seattle, WA and Galveston, TX
• Travel & related expenses covered by the study sponsor

If you're interested in learning more, please fill out the Study Interest Form—your responses are completely confidential and only used to determine interest in receiving further details.

Have questions? We’d love to talk! Call 800-868-1292 or email info@porphyria.org for more information.

Get involved in research!

There are multiple studies going on right now that need your patient expertise. Check out our current opportunities and find out how you can participate here.

OR

contact UPA at 1-800-868-1292 or info@porphyria.org for more information

You made it!

So what do you say when you catch a ghost? I got you, boo!