August UPDATE

Dear friend,

As summer winds down, we're looking forward to a busy fall! The coming weeks and months are filled with plenty of opportunities to connect, learn and get involved in the community. We can't wait to share what we have in store. Read on for:

• Porphyria Palooza! Book now!
• Upcoming Events: AHP Liver Health and Mental Health webinars.
• New Resources: CEP Voice of Patient Report, webinar recordings.
• EPP & XLP Treatment Updates: Dersimelagon ownership change and new bitopertin expanded access sites.
• Participate in Research: EPP/XLP survey opportunity.
• UPA and Partner Updates: UPA welcomes new board member, Junior Ambassadors and more!
• Connect UP with Your Community: Find the group(s) for you!
• Porphyria Voices: A story of love, strength and hope.
• Our Stories: Meet Bennet and Milton.

We are grateful everyday for this incredible community. We're so glad you're here💜

With gratitude,

The UPA Team

In-Person: Porphyria Palooza, October 9-11!

The countdown is on for Porphyria Palooza, and we can't wait to welcome our porphyria community for an unforgettable weekend of connection, learning, and fun!

Included! Exclusive Porphyria Palooza Sweatshirt

Show your Palooza spirit throughout the weekend and beyond! Every registered attendee will receive an exclusive Porphyria Palooza sweatshirt.

Bringing the family? We've got you covered!
Our Kid's Zone will offer a camp-style experience for children attending with their families. Packed with engaging activities, games, crafts, and supervised fun, Kids Zone gives young attendees an exciting weekend of their own while parents participate in porphyria programs and activities.

Hotel Deadline Approaching-Book by September 8

If you haven't already, be sure to complete your event registration and reserve your hotel room soon. The discounted group hotel rate of $189 is available only through September 8. After that date, rooms in our hotel block will be released and both availability and pricing may become limited.

Don't wait until the last minute. Register today and book your hotel room before September 8 to secure your spot, your sweatshirt, and a memorable Porphyria Palooza experience for the whole family.

Registration is $25/person for adult and free for children and teens under 18, and includes all meals and snacks, a dance party, special outing and more! Get all the details and register at porphyriapalooza.com.

PSST...help promote Porphyria Palooza and you could win one of two travel packages to attend! Tag your friends in our promotional post on Instagram or Facebook for a chance to win!

AHP Liver Surveillance & Care

Join porphyria expert Bruce Wang, MD to learn more about the connection between liver health and acute hepatic porphyrias (AIP, HCP, VP & ADP).

The webinar will explore:

• The connection between liver health, cancer, and acute hepatic porphyrias
• Liver health monitoring and surveillance recommendations

The Details

• Date: Saturday, August 22, 2026
• Time: 12:00–1:00 PM ET
• Location: Zoom- register for link

The presentation will be recorded and available after the webinar.

Porphyria & Mental Health: What You Should Know

For many of us, the biggest challenges are not the ones others can see. The challenges of navigating an often misunderstood rare disease can be emotionally exhausting.

Join Give an Hour's Julie Wells, to explore the connection between chronic illness and emotional well-being, with a focus on the unique challenges faced by people living with porphyria. Including:

• How past experiences shape our responses under stress
• The impact of uncertainty, self-advocacy, and medical trauma
• Crisis support resources and where to find help

The Details

• Date: Monday, August 31, 2026
• Time: 7:00–8:00 PM ET
• Location: Zoom- register for link

The presentation will be recorded and available after the webinar.

CEP Voice of the Patient Report is now available on FDA website

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) Meeting on Congenital Erythropoietic Porphyria (CEP) on October 14, 2025.

A Voice of the Patient Report summarizing the experiences and priorities identified during the meeting is now available. This report is listed on the FDA's website and is publicly available to inform regulatory decisions and future drug development. 

A huge thank you to all the patients and caregivers who participated in this process and shared the often difficult realities of living with CEP 💜

Recording: What's New in EPP & XLP? PATHWAY Clinical Study for PORT-77

UPA hosted a webinar with GondolaBio to share details for the upcoming PATHWAY clinical trial for PORT-77, a new potential treatment for EPP & XLP. Watch to learn more about:

• Current research in EPP and XLP
• The science behind PORT-77
• What GondolaBio has learned from earlier clinical research
• An overview of the upcoming PATHWAY clinical trial

Interested in learning more about the PATHWAY study? Complete this interest form.

Recording: Reflecting on 50 Years of Porphyria Research Webinar

Watch this exclusive, live interview with Dr. Herbert Bonkovsky, the pioneering physician and researcher whose work has helped shape more than five decades of progress in porphyria research, diagnosis, and treatment.

Hear the stories behind important milesotnes, including the first use of hemin to treat attacks, and recognize Dr. Bonkovsky’s remarkable contributions to the porphyria field.

LEO Pharma Acquires Dersimelagon

UPA is encouraged by LEO Pharma’s agreement to acquire worldwide rights to dersimelagon and its commitment to advancing this potential treatment for people living with EPP and XLP.

For our community, this announcement represents continued investment and forward motion at an important time. People with EPP and XLP urgently need more treatment options that can reduce phototoxic pain and expand their ability to participate more fully in everyday life.

Dersimelagon remains investigational, and its New Drug Application is currently under review by the FDA. We are deeply grateful to the patients and families whose participation in clinical research helped make this progress possible.

UPA looks forward to engaging with LEO Pharma and ensuring that patient experiences, priorities, and access needs remain central as this potential treatment moves forward. As a patient advocacy organization, we will continue to provide our community with clear, accurate information and advocate for a future in which every person with porphyria has access to treatment options that meet their individual needs.

Five Bitopertin Expanded Access Sites Now Open

Disc Medicine’s Expanded Access Program allows eligible people with EPP or XLP to be considered for access to bitopertin, an investigational medicine being studied for these conditions, outside of a clinical trial.

Five sites for Disc Medicine’s Expanded Access Program (EAP) for bitopertin are now open to U.S. residents aged 12 and older.

Open sites are:

• New! Boston, MA | Amy (Dickey) Yeung, MD
• Boston, MA | Mark Amster, MD 
• New York, NY | Manisha Balwani, MD
• Miami, FL | Cynthia Levy, MD
• Winston-Salem, NC | Sean Rudnick, MD

More sites are expected to open in the coming months. United Porphyrias Association helps connect interested patients with available sites, especially when a site opens in or near their region. Patients may also be able to travel to an open EAP site.

Learn more about participation criteria and receive updates on the program here.

Calling all EPP & XLP Community Members!

Researchers at Stanford University are conducting a research study to better understand the pain experienced by people with EPP and its impact on quality of life and daily behaviors. 

Participation involves completing a ~10 minute online survey. 

Who can participate?

• Adults (age 18+) with a confirmed diagnosis of EPP/XLP
• Children (age 12-17) with a confirmed diagnosis of EPP/XLP
• Parents of a child (age 12-17) with a confirmed diagnosis of EPP/XLP

Participants may be located anywhere in the world but must be able to read and understand English well enough to answer the study questions.

Learn more and participate here.

Porphyria patients are the center of all porphyria 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.

UPA Junior Ambassador Program Launches with 17 Participants

This month UPA welcomed the first participants into our new Junior Ambassadors Program! The program empowers young people to become informed advocates, build connections within the porphyria community, raise awareness, and make a meaningful impact through volunteer service.

UPA will work with Junior Ambassadors to find meaningful projects and participants are eligible for a a $500 Junior Ambassador Scholarship. We look forward to sharing updates throughout the school year of Ambassador's activities!

New Column from UPA President Kristen Wheeden featured in Porphyria News

In life with rare disease, it’s important to find your people: Making lifelong friends has been an unexpected gift of porphyria

A friend recently sent me a grainy image taken 10 years ago at Camp Sundown, a camp for children with rare diseases that make sunlight dangerous and painful. In the photo, my friend and I are sitting on top of a car with a few other moms. Back then, we brought our families to camp year after year, becoming fast friends because we were all raising children whose worlds had to be rearranged around the sun.

UPA Welcomes New Board Member

Tiago Girão, UPA Director

UPA is pleased to welcome Tiago Girão to the UPA Board of Directors. Tiago brings valuable knowledge and experience in the pharmaceutical industry and financial management. Tiago’s daughter lives with EPP, which inspired his deep commitment to the porphyria community.

Mr. Girao is the Chief Financial Officer of Immunovant, a clinical-stage biopharmaceutical company, and has held senior finance leadership roles across the biotechnology industry, including CFO positions at several Roivant subsidiaries and Cytori Therapeutics, Inc. He began his professional career with Ernst & Young and KPMG, accumulating more than a decade of experience in public accounting and corporate finance. In addition to his executive leadership experience, Tiago served on the Board of Directors of Landos Biopharma, Inc. both prior to and following its acquisition by AbbVie Inc. He holds an accounting degree from Universidade de Fortaleza in Brazil and is a Certified Public Accountant licensed in California.

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

Find the Connect UP Groups for You!

Connect UP groups are formed based on interest or shared experiences. Follow the links below or visit the Connect UP page to learn more about upcoming groups!

For Well-Being, Not Porphyria Specific

• Youth
• Guided Meditation
• Caregivers
• Pacientes de Porfiria
• LGBTQIA+

For Acute Porphyrias (AIP, HCP, VP & ADP)

• Weekly Acute Porphyrias
• Men
• Paralysis

For Cutaneous Porphyrias

• CEP & HEP
• All Cutaneous (EPP/XLP, PCT, CEP, VP, HCP)

New Connect UP Groups

Acute Porphyrias Connect UP- Special Evening Edition

By popular demand! Join us for an evening/late afternoon Connect Up for people living with Acute Hepatic Porphyria (AHP, includes AIP, HCP, VP, ADP)! This a supportive and understanding space to connect, share, and feel seen.

Special meeting: Thursday, September 1 at 6 PM ET

Register

Connect Anytime: Porphyria Together Facebook Group

Share your successes and struggles on our private Facebook community: Porphyria Together.

This group is a great place to connect with others, gain tips and insights on managing your porphyria, and access exclusive livestreams where porphyria experts take your questions.

Connect Anytime: Porphyria WhatsApp Community

UPA has created a WhatsApp Community, a private messaging space that allows members to connect through a phone or computer. Community members can stay in touch, share resources, ask questions, and support one another.

The community includes separate, closed discussion groups based on porphyria type and shared experiences. This creates a safer, more focused space for people to connect with others who understand.

Porphyria Voices is a UPA blog where we share experiences, insights, and advice from the porphyria community. Discover valuable knowledge, foster connections, and join us in raising awareness to empower and unite our porphyria family.

Our Story of Love, Strength, and Hope

When someone has porphyria, their loved ones also live with the condition.

By Keshia Le Roux

In November 2025, my life changed forever. I became very ill, and the four months that followed were the toughest battle I have ever faced. There were days filled with uncertainty, fear, pain, and questions I never thought I would have to ask.

Throughout every hospital visit, every setback, and every difficult day, my partner was by my side whenever she could be. Her presence gave me strength when I felt like I had none left.

Meet Bennet, CEP Warrior

"To newly diagnosed patients and families: you are not alone, and you are so much stronger than you know."

Hi, my name is Bennett Disney, and I am 4 months old. I have a big sister named Clover, and we are from a small town in Arkansas. I love cuddles with my mom and dad and playing with my sister, especially when she pretends to be a dinosaur to make me laugh.

When I was born, I had a rash called petechiae caused by low platelets. Doctors also discovered my spleen was enlarged, and I had severe jaundice with liver damage. At just 24 hours old, I was life-flighted to Arkansas Children's Hospital in Little Rock.

Doctors ran countless tests while treating my jaundice under bilirubin lights. During treatment, I began blistering, which doctors couldn't explain at the time.

Meet Milton, ADP Warrior

"Knowledge is power. The more you know about porphyria, the stronger you will be."

My name is Milton Eduardo Cubas and I am 29 years old. Sports and physical activities with others are two of my favorite things. My current studies at Miami Dade College are to become a math teacher.

I had my first porphyria attack on a very hot summer day in 2000 at a castle in Cartagena, Colombia named Castillo San Felipe de Barajas. I was with family members and I remember feeling fatigued while taking a tour of the castle. I drank a whole bottle of water after leaving. Once I got in a taxi, I felt nauseous and tired. We stopped to eat something, but I vomited. I went to the hospital but they could not find anything.

I remeber feeling a lot of pain while searching for answers, and had to cut my Colombia trip short. I went to Miami Children's Hospital, where my attack subsided, but the doctors still could not find the cause. I would have an attack every month or two for a year until a doctor named ELSA Vasconsuelos told me that I may have porphyria. Soon after, my dad found Dr. Anderson.

We want to help you 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.