November UPDATE

Dear Friend,

As we reflect on this season of gratitude, we want to express how thankful we are for you and every member of our porphyria community. Your strength, stories, and support inspire us and drive everything we do.

This month, we’re especially grateful for the connections we’ve built together and the difference we’re making as a united community. Thank you for being part of this journey with us.

With gratitude,

The UPA Team

Reproductive health is an important topic for individuals with porphyria, raising unique questions and considerations. How can you plan for a healthy pregnancy? What are the safest options for birth control?

Join Dr. Rebecca Karp Leaf, a leading porphyria specialist at the Porphyria Center at Massachusetts General Hospital (MGH), for an informative webinar on Saturday, January 11 at 1:00 PM ET.

Don’t miss this opportunity to learn and ask questions about reproductive health and porphyria!

Dr. Karp Leaf will cover key topics, including:

• Family planning for individuals with porphyria
• Pregnancy care and important precautions
• Safety of fertility treatments
• Birth control options tailored for porphyria patients
• Hormone replacement therapies

This session will focus on acute hepatic porphyrias (AIP, HCP, and VP), but individuals with all types of porphyria are encouraged to attend.

Disc Medicine has announced promising developments in bitopertin, their treatment for EPP and XLP, following a successful meeting with the FDA.

There's now the potential for an accelerated review process, which could mean faster access to bitopertin for patients if approved. This pathway would allow the FDA to consider conditional approval while final clinical and safety trials are still ongoing.

Thank you to every patient that participated in the Phase 2 study and all research in the porphyrias! This marks an exciting step forward in the journey toward new treatments for EPP and XLP! 🌟

Disc Medicine also announced that there will be an upcoming Phase 3 trial called APOLLO.

Interested in participating in the Phase 3 trial? Fill out an interest form!

A recording of the Dr. Wang's live Q&A is now available on the Porphyria Together Facebook Group. Check it out for answers to questions on:

• Caring for porphyria blisters
• Connection between cortisol levels and acute hepatic porphyrias
• Pregnancy precautions for acute porphyrias
• Going into remission with PCT

...and more! Huge thank you to Dr. Wang for taking time to answer our questions!

Have questions? You don't need to wait for the next What's UP Doc? Live Q&A. Email UPA at info@porphyria.org or call us at 1-800-868-1292 and we'll get you an answer!

Applications open! Limited slots remaining for campers and volunteers

Join us for SUN ESCAPE WEEKEND 2025, a one-of-a-kind event dedicated to celebrating all things Fun and all things No Sun! We’re seeking 32 families with kids aged 6-17 affected by photosensitivity from across North America and 40 incredible volunteers to be part of this unforgettable experience at Victory Junction, North Carolina, May 1-4, 2025.

For Families: SUN ESCAPE is a free weekend adventure for children with photosensitive conditions and their families. From travel to activities, everything is covered – just bring your smiles and get ready for a fun-filled, sun-safe weekend!

Ready to Apply?



Head to www.sunescape.org to secure your spot. Application deadline is December 1, 2024.

Become a Sun Escape Volunteer!

Want to give back and help create a safe, magical experience? We need enthusiastic volunteers who will bring sunshine to this unique, no-sun event. As a volunteer, you’ll have the chance to truly connect with these amazing kids, help with the challenges they face, and celebrate their strength. Travel stipends are available for volunteers.

Be a part of something extraordinary! Learn more and apply today to join us at SUN ESCAPE 2025!

Within this community, we find people who get it. We share stories, lift each other up, and form bonds that transcend geography, age, or background.

In her latest column for Porphyria News, UPA President Kristen Wheeden reflects on finding gratitude in the face of adversity.

As Thanksgiving approaches, I find myself reflecting on the concept of gratitude — not the surface-level kind we often recite out of habit, but the kind born out of adversity. Living with porphyria, or loving someone who does, can feel like navigating a storm. Yet it’s in the storm that we often find our greatest strength — and our deepest gratitude.

Porphyria is, by its nature, an unwelcome companion. It disrupts routines, alters life plans, and challenges us in ways many people can’t fathom. It’s a teacher we didn’t ask for and a test we’d never voluntarily take. But for all its hardships, porphyria has a way of revealing life’s silver linings. And those silver linings — those small but profound moments of clarity and connection — become the foundation of resilience and hope.

The porphyria community is so fortunate to have passionate researchers, physicians and advocates who work alongside us to make a better future for porphyria!

In this feature we'll be talking to our porphyria experts and advocates to learn about their work, promising research, new treatments and more!

Meet Makiko Yasuda, MD, PhD, Porphyria Researcher

"One thing I love about science is you learn something, then new information comes up and it opens up a whole new set of questions."

Can you introduce yourself and tell us a bit about your connection to porphyria?

My name is Makiko Yasuda and I'm an Associate Professor at Mount Sinai School of Medicine in New York City. I have been working on the porphyrias and heme biosynthesis for nearly 20 years. I was trained as a pediatrician in Japan but have dedicated my career to full-time research. 

My lab performs basic and translational research, mainly on the acute hepatic porphyrias (AHPs). A lot of our work aims to uncover the underlying mechanism(s) of the neurologic dysfunction in the AHPs and to develop new treatments for these disorders by applying mouse models. 

The American Porphyrias Expert Collaborative (APEX), our partner organization, promotes and carries out fundamental, translational, and clinical research in the fields of the Porphyrias and heme biosynthesis, and increases knowledge of the porphyrias among physicians and scientists.

The American Porphyrias Expert Collaborative (APEX) is pleased to announce the 2025 International Human Heme Biosynthesis and Porphyrias Research Prize, a prestigious opportunity to advance research in the fields of human heme biosynthesis and the porphyrias.

​This $250,000 research prize is designed to foster innovation and discovery, with a special focus on supporting early-career investigators. We invite applications from young researchers worldwide who are pursuing groundbreaking basic, translational, preclinical, or clinical research in these fields.

Initial applications due February 15, 2025. Learn more about the criteria and application process at the APEX website.

Prize Winner to be announced at the International Porphyrias Symposium 2025

The prize recipient will be announced at the International Porphyrias Symposium, October 9-12, 2025 in Washington, DC.

The program will feature US and international experts and will explore the clinical manifestations of each porphyria, and the latest advances in their diagnosis, management and treatment, including newly approved and emerging therapies.

Symposium details to come!

UPA educates about porphyria at Liver Meeting

Scientific Advisory Board Member Dr. Akshata Moghe and UPA's Liz Allan at the American Association for the Study of Liver Diseases Annual Meeting in San Diego

UPA had an exhibit booth at The American Association for the Study of Liver Diseases Annual Meeting (also called The Liver Meeting). We had great conversations with new and established physicians about recognizing, diagnosing and treating porphyria.

The Liver Meeting was attended by hepatologists and other related health providers and researchers including UPA Scientific Advisory Board members Dr. Bruce Wang, Dr. Brendan McGuire, Dr. Manish Thapar and Dr. Akshata Moghe.

Dr. Bruce Wang presented on Long-Term Data for Givlaari® (givosiran), including Clinical Case Reviews and there were two porphyria-related poster presentations: Dimension Analysis of EQ-5D in patients with acute hepatic porphyria presented by Dr. Susana Monroy-Santoyo , and Impact of Givosiran treatment on symptoms between acute attacks presented by Dr. Manish Thapar.

Next stop: American Association of Hematology Annual Meeting and Exposition

UPA will be in San Diego December 7-10th to share information and raise awareness of porphyria at the largest education event of the year for hematologists!

UPA Joins Rare and Ready: A Genetic Coalition

We are proud to be a new member of Rare and Ready: A Genetic Coalition. UPA will work with them to advocate for policies that mitigate Medicaid program hurdles to ensure that patients with rare and genetic conditions get access to the care they need.

Priorities include improving access to tele-health so patients can have access to expert care and improving timely access to treatments through Medicaid. Learn more at rareandready.org

Tell us about your advocacy and awareness efforts!

We love to hear about your advocacy and awareness efforts too! Please send them our way at info@porphyria.org.

Participant recruitment is now underway for a phase 3 study of MT-7117, an investigational treatment for Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP).

Fast Facts:

• 10 sites now open in the US!
• Age 12+ with confirmed EPP/XLP diagnosis
• Have not previously received dersimelagon
• 150 participants needed globally
• The study drug is an oral medication
• Study includes an optional open-label extension

Interested or want to learn more? Fill out a confidential interest form.

UPA invites you to share your porphyria story.

Your story has the power to:

• Create a sense of belonging and mutual support within the porphyria community
• Raise awareness and understanding of porphyria among healthcare providers and the public
• Reduce feelings of isolation and challenge the stigma often associated with a porphyria diagnosis
• Offer hope, guidance and inspiration who may be facing similar challenges

We’re here to support you in telling your story, in your own voice. Stories will be featured on UPA’s social media channels, website, and in our newsletter.

Interested in sharing? Please fill out this form, and our Community Engagement Team will connect with you.

Connect UPs are small, virtual meetings hosted by somebody who knows what you're going through. Sign up to be connected with a group of your peers!

Groups are available for all types of porphyria and for caregivers. New groups will be formed based on interest.

You are not alone

Sometimes you need to talk to someone who understands.

That's why we are thrilled to announce UPA 1:1, where we connect you with a UPA Ambassador who understands what you're going through, because they've been there too.

Connect by phone or video call to receive support, guidance and build meaningful connections with a fellow porphyria patient or caregiver. Available in English and Spanish.

Want to help others on their porphyria journey?

We are inviting patients and caregivers to become volunteer UPA ambassadors.

Help fellow porphyria patients and caregivers navigate their diagnosis and adjust to the realities of living with porphyria.

Comprehensive training will be provided.

 Add United Porphyrias INSTA, FACEBOOK, TWITTER to your social media feeds.