October UPDATE

Dear Friend,

October has us feeling especially grateful after an amazing weekend at Porphyria Palooza—it felt like a family reunion, bringing our porphamily together in the best way! 💜 With more opportunities to connect in-person and online, and hopeful news on the horizon about new porphyria treatments, we’re reminded how much there is to look forward to and how thankful we are for every opportunity to connect, celebrate, and support our incredible community.

In this eNews:

• Upcoming Events: Link UP in-person in Denver, CO.
• Treatment Updates: First trial for CEP begins, Disc announces positive phase 3 results and more!
• Participate in Research: PULSE longitudinal study, insurance experience and Pathway Clinical Trial.
• New Research: CEP symptoms and the impact of quality of life
• Porphyria Palooza Highlights
• New Resources: What's UP Doc? Live Recording.
• UPA in the Community: UPA attends PeDRA.
• Advocacy Update: Vote for rare disease.
• Connect UP with Your Community: Find the group(s) for you!
• Our Stories: Meet Sabaritha and Pierre.
• Porphyria Merch: Visit the UPA Store.

With gratitude,

The UPA Team

In-Person Link Up in Denver on November 6

Join UPA and porphyria community members in the Denver region for a patient meet-up.

Enjoy refreshments as porphyria expert Dr. Bruce Wang (UCSF) shares the latest on porphyria care and answers your questions. Then stay to connect with others in your area who understand what you’re going through.

Details:

• Date: Friday, November 6, 2026
• Time: 7:00-9:00 PM
• Location: Will be provided upon registration

Patients, family members, friends, and caregivers are all welcome. We can’t wait to see our Denver-area Porphamily there! 💜

First Clinical Trial for Congenital Erythropoietic Porphyria (CEP) Now Underway!

On October 19, 2026, Atlas Molecular Pharma announced that three CEP patients had received their first dose of an investigational treatment for CEP. This Phase 1/2 clinical trial is the reflection of years of research and work to develop a treatment for this ultra-rare form of porphyria.

This trial is a major milestone for the CEP community and provides hope for a future without the pain and challeges of CEP.

Positive Results Announced for Phase 3 APOLLO trial for Bitopertin

On Monday, October 19 Disc Medicine announced that its APOLLO Phase 3 clinical trial of bitopertin topline results demonstrated statistically significant and clinically meaningful benefit across all study endpoints.

UPA Community Call: Recording Available!

To help us make sense of the Phase 3 results and understand what comes next, UPA hosted a Community Call with porphyria expert Amy Yeung, MD and Disc Medicine leadership on October 21 to discuss:

• Results of the APOLLO Phase 3 clinical trial and their significance
• Timeline and next steps for bitopertin
• Disc Medicine’s message to the porphyria community

Thank you to everyone who participated and asked questions.

Your interest and involvement demonstrate the impact of bitopertin and the need for treatment options.

Interested in bitopertin? Patients in the United States aged 12 and up may be able to access bitopertin through the Disc Expanded Access Program (EAP). Learn more about the program and how to access it here.

Sponsored Protoporphyrin IX (PPIX) Diagnostic Testing for EPP and XLP Now Available

Disc Medicine is collaborating with Mayo Clinic Laboratories (MCL) to facilitate diagnostic evaluation of patients with suspected EPP or XLP. The PPIX Testing Program allows healthcare providers in the United States a free-of-charge testing option for eligible patients.

The pathway to a diagnosis can be long and frustrating. We applaud Disc Medicine for making it easier for patients and their healthcare providers to access appropriate testing.

A new study published in Molecular Genetics and Metabolism focuses on the experiences of people living with CEP.

By listening directly to people living with CEP, this study captures what standardized questionnaires and medical records miss: the full reality of the disease as patients experience it.

Key findings include:

• Bringing overlooked symptoms into focus: Patients described the real toll of symptoms that are often under-recognized, such as skin fragility and chronic pain.
• Revealing the emotional and social burden: Participants reported significant effects on their emotional and social well-being, whether their disease was mild or severe.

The findings of this study can help evaluate potential treatments for CEP- including the newly launched clinical trial- and improve the support and care for patients with CEP. The study was led by UPA Scientific Advisory Board members and porphyria experts Hetanshi Naik, PhD and Angelika Erwin, MD, PhD.

Join PULSE and Help Transform our Understanding of Porphyria

The Porphyria U.S. Longitudinal Study of Evaluation (PULSE), the world’s largest porphyria study, is back at our Porphyria Centers of Expertise! For more than 15 years, participants have shaped how porphyria is diagnosed, managed and treated. Now you can join from anywhere in the U.S., even if you don’t live near a Center.

We are asking people of all ages and with all types of porphyria living in the U.S. to join this important study.

What does participation look like?



You’ll have an initial 1-hour appointment, either in-person at a participating Porphyria Center of Expertise or virtually where you'll be asked to complete questionnaires, share medical records and arrange blood or urine samples. There is an annual follow-up to update information from the previous year.

If you are already enrolled, schedule your follow-up appointment! If you are unsure, please email info@porphyria.org.

What are the benefits of joining PULSE?

• An annual touchpoint with a Porphyria Center of Expertise
• Free to join and you can participate from home
• Improve porphyria diagnosis and care for you and future generations
• Provide researchers and drug developers with real-world evidence to design new treatments and improve clinical trials

Porphyria Patient Experiences with Health Insurance

United Porphyrias Association wants to better understand the porphyria community’s experiences with health insurance coverage. 

You are invited to share your experiences with health insurance in this brief (10-15 minute survey).

What we learn will help us provide stronger support and resources related to coverage for clinical care and current and future treatments.

NOW RECRUITING! PATHWAY Clinical Research Study for EPP & XLP

PATHWAY is a clinical research study evaluating an investigational medication called PORT-77 for people living with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP).

PATHWAY is designed to learn how well PORT-77 works, understand possible side effects, and evaluate its potential impact on people living with EPP or XLP. Individuals with EPP or XLP aged 12 and older may be eligible to participate. 

The study is sponsored by GondolaBio, a clinical-stage biopharmaceutical company developing potential therapies for people living with genetic diseases. 

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.

Our hearts are so full after an incredible weekend with our Porphamily in Kansas City, MO! More than 125 people from 3 continents representing 7 types of porphyria came together, making this our biggest family reunion yet.

Some Favorite Moments

Finding our People

Porphyria Palooza is all about connection. Porphyria can be a isolating experience and this weekend reminded all of us that we are not alone.

Learning from Each Other

From icebreakers and easy conversations to powerful patient stories (there wasn’t a dry eye in the room), Q&As and one-on-one meetings with porphyria experts, and a Porphyria Care Toolkit to take home, Palooza left us better equipped to manage our porphyria.

“It was all really wonderful. I love that I've finally found my people.”

New Ways to Move Porphyria Forward

We unveiled new ways for our community to shape the future of porphyria care with a preview of a new tool that puts your porphyria in your pocket, relaunched PULSE so you can join from anywhere in the U.S., and launched a patient-led research agenda where YOU voted on the research and resources our community needs most.

Having Fun!

We kicked off the weekend with the Game Show Studio and a Chiefs Stadium Tour that set the tone for a weekend full of fun and friendship! From hanging out in the 24/7 Chill Zone and making goo in the Kids’ Zone to dancing with a life-size Porphy at Saturday’s dinner and dance party, the weekend was packed with memorable moments!

"It’s hard to only pick one word to describe it, but I think I have to go with HOPE. So many inspiring stories, knowledge from the experts, and so many hugs from strangers turned porphamily."

“There is power in connecting with people who ‘get it’. Hearing people share themselves and how far they have come is inspiring. It felt like a connection I didn’t even realize I needed.”

Until We Meet Again

To everyone who joined us in Kansas City: thank you for making Palooza so special. We loved every hug, every story, and every dance. To those who couldn’t be there, we missed you and can’t wait to see you next time. Until then, let’s stay connected, and we look forward to reuniting with old friends and welcoming new ones soon!

Wellness Spotlight: The Inner Alter

Did you join the sound bath at Porphyria Palooza? It was led by Justice of The Inner Alter, who loved meeting our Porphamily and holding space for everyone that weekend. 💜

For those who asked, here’s how to connect with Justice. 

Thank you to our sponsors for making 
Porphyria Palooza possible!

Recording: What's Up, Doc? LIVE with Dr. Bruce Wang, Sept 26

On Saturday, September 26, Dr. Bruce Wang (UCSF) took your porphyria questions live on the Porphyria Together FB Group. From pain, to medications and lab testing, Dr. Wang addressed many important questions in this live session.

In the recording, Dr. Wang covers:

• Pain when exercising
• Impact of creatine on ALA/PBG testing
• Pain management with gabapentin and opioids
• Differences between hemin in U.S. and Europe
• Meaning of high urine PBG if genetic test is negative

...and so much more!

UPA Brings the Porphyrias to PeDRA 2026

UPA's Liz and Kristen at

Last week, UPA President Kristen Wheeden and COO Liz Allan joined about 400 pediatric dermatologists, researchers and advocates at the 14th Pediatric Dermatology Research Alliance (PeDRA) Annual Conference in Alexandria, Virginia.

For children with EPP, XLP and CEP, a pediatric dermatologist is often the first specialist they see. That’s why being in this room matters.

Highlights:

• Kristen presented the work of UPA on center stage
• Our UPA poster was featured alongside other rare skin disease communities
• Kristen recorded a patient testimonial video for PeDRA
• The UPA exhibit featured diagnostic resources and porphyria information while making new connections with doctors and fellow advocacy groups.

Thank you, PeDRA, for making space for patient voices!

Rare Disease Votes Matter!

Election Day is Tuesday, November 3, and your vote can help shape the future of porphyria and rare disease care.

UPA's Keili McEwen faciliating a panel the Oklahoma Rare Disease Fair in September.

A message from UPA Legislative Advocacy Manager, Keili McEwen

This year, voters will elect members of Congress and, in many states, governors, attorneys general, and state lawmakers.

These leaders make decisions that affect prescription drug costs, access to treatment, and funding for medical research. Federal policies also influence the development of orphan drugs and treatments for rare diseases like porphyria. For patients and families, these decisions can affect both the care available today and the promise of new treatments tomorrow.

Whatever your political views, make time to vote and help ensure the rare disease community is heard.

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

• Young Adults
• Guided Meditation
• Caregivers
• Pacientes de Porfiria
• LGBTQIA+
• Teens & Youth

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

• Weekly Acute Porphyrias
• Monthly Evening Acute Porphyrias
• Men
• Paralysis

For Cutaneous Porphyrias

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

New Connect UP Groups

Teens & Youth Connect UP

A welcoming space for kids and teens with porphyria to connect with others who understand, share experiences, talk about the challenges of navigating everyday life with porphyria, and simply be themselves. Facilitated by Molly, a UPA Junior Ambassador.

Next meeting: Saturday, October 24 at 6 PM ET

Register

Positive Thinking Connect UP

A welcoming space centered on positive thinking led by Sean Albright. This gathering offers an open space to come together, share, and find comfort in community.

Tuesday, October 27 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.

Meet Sabaritha, AIP Warrior

"When I finally regained consciousness, I woke up in a hospital bed barely able to move."

Hi, I'm Sabaritha Nagendran (32) from Kayamozhi, Tamil Nadu, India. Growing up, dance was my whole world. I started classical dance when I was four years old while we were living in Sharjah, UAE. My mother was a dancer, and she was the one who introduced mw to it. From then on, my weekends revolved around classes, performances, and practice. At school, I was known as "the girl who could dance" or "the girl with long hair. But, everything changed when I was 14.

At the time, we were living in Cairo, Egypt, and I had been preparing with my friends for our school's International Day celebration. We performed together, and although I don't remember much of that day now, I was told we won first prize. That night, I had my first porphyria attack.

Meet Pierre, EPP Warrior

"For someone who spent decades fearing sunlight, being able to sit outside and fish is more than just a hobby. It represents a kind of freedom I once could hardly imagine."

For most of my life, sunlight was something I feared. I live with EPP and even a few minutes in the sun could cause excruciating pain. Fore decades, I had to carefully plan my life around avoiding daylight and limiting my exposure. Things that many people take for granted, spending time outdoors, being out on the water, or simply enjoying a sunny day, came with consequences for me.

Today, I am experiencing something I once could hardly imagine. I can go fishing. I can spend time boating. I can stay outdoors longer and I have even developed my very first tan. I can do this because I participated in the AURORA Phase 2 clinical trial of bitopertin. It is designed to reduce the production of protoporphyrin, the subtance that builds up in EPP and contributes to the light-induced pain.

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.

You asked and we delivered! The UPA store has expanded to include clothing and accessories for the whole Porphamily!

Help raise awareness and show your porphyria pride with an item from one of our new collections:

• Porphyria Strong
• Porphyria Warrior
• Warrior Parents
• Porphamily
• UPA

With hoodies, hats, tees, phone cases, totes, car magnets, mugs and more, there is something for everyone!