SEPTEMBER UPDATE

Dear Kristen,

September has been a busy month at the UPA and in the porphyria world! UPA hosted the first ever Porphyria Palooza Patient and Family Weekend, and then we joined porphyria physicians, researchers, and patients from around the world at the International Congress on Porphyrins and Porphyrias (ICPP) in Pamplona, Spain. Read on to learn more.

But first….we have announcements!

Shadow Jumpers and the United Porphyria Association have teamed up (again!) for SUN ESCAPE WEEKEND 2025 happening at Victory Junction in North Carolina May 1st to May 4th.

This transformative weekend promises to build off last year’s success by going bigger, better and with an extra day. We are looking for 32 photosensitive families from across North America (and 40 volunteers) to join us in celebrating all things Fun and all things No Sun.

SUN ESCAPE is open to kids from North America ages 6-17 with a photosensitive condition and their families. The weekend is completely free to participating families, including travel costs.

Visit our joint website to apply today www.sunescape.org. Deadline to apply is December 1, 2024.

Over 17 but still want to participate?

We're also looking for volunteers! Volunteers help provide a fun and sun proof experience to children, and promote a deeper understanding and appreciation for growing up with these unique conditions. Volunteers will receive a travel stipend.

Learn more about volunteering here!

Dr. Bruce Wang will be taking your porphyria questions live!

Join us on the Porphyria Together Facebook Group on Saturday, October 19th at noon ET.

You can check out past What's UP Doc? Live Recordings in the featured section of Porphyria Together.

We are still buzzing from our first Porphyria Palooza weekend and can’t wait gather again.

More than 100 porphyria friends, ages 7-70, from 26 states and 3 continents representing 6 types of porphyria joined us in Chicago September 13-15 for this very special event!

Here are some of the highlights:

Meeting our “Porphamily” 

We said Porphyria Family so many times over the weekend, that soon became “Porphamily!"

For so many of us, this weekend was the first time we were able to meet someone else with porphyria in person. Porphyria can be lonely and we heard from many of you that getting to connect was life changing.

“I haven’t met anyone outside my family who has porphyria until coming here and that means a lot. I felt important”

From the planned events, to getting cozy in the 24/7 porphyria hub, this weekend was an amazing chance to be the "normal one" with a roomful of people know what you're going through.

Facing the realities of porphyria together

The weekend events included presentations and activities hosted by fellow patients and caregivers, on topics lsuch as navigating employment, nutrition, advocacy, as well as an Q&A with porphyria expert and fellow patient, Dr. Amy Dickey (MGH).

We rounded off the weekend with Craig Leppert of Shadow Jumpers. The “por-fear-ria” activity invited everyone was invited to anonymously share their fears about their porphyria. Fears ranged from about losing access to treatment, to impacts on your or your children's quality of life, to fears of health complications, and even the fear of losing your life to porphyria. It was validating to hear that we aren't alone with those fears. Even more, fellow patients shared advice and guidance on how to manage them. “You are not alone” was a constant theme.

Having fun

From kicking off with a boat cruise down the Chicago River on Friday to people of all ages tearing up the floor and bringing down the house with karaoke on Saturday. Porphyria Palooza was just so much fun!

We can't wait to see our "porphamily" again!

Thank you to our sponsors for making PorphyriaPalooza possible!

UPA's Kristen Wheeden and Dr. Robert Desnick

The International Congress of Porphyrins and Porphyrias (ICPP) wrapped up yesterday in Pamplona, Spain.  ICPP is organized by the International Porphyria Network (Ipnet), the European colleagues of the US expert team.

The ICPP is a biennial meeting that brings together porphyria researchers, doctors and patients to share the latest research findings, current and potential treatments and emerging questions. It was a great conference with lots of exciting presentations and developments.

Several members of the UPA team joined 11 porphyria experts from the UPA's Scientific Advisory Board to learn from and present at the meeting.

Key takeaways from ICPP 2024

New porphyria treatments are in development

• EPP and XLP: results from trials of bitopertin and for MT-7117 were presented and a new treatment for EPP is under development by Portal Therapeutics. This oral medication could lessen photosensitivity and reduce EPP-related liver damage.
• CEP: The first potential treatment for CEP is nearing clinical trials! The treatment helps stabilize the enzyme associated with CEP.
• AIP: A gene-editing treatment is being developed to treat AIP.
• VP: A small study in Europe is testing if afamelanotide (Scenesse) might help improve skin symptoms in variegate porphyria.

Dr. Bruce Wang presenting at the congress

Focus on porphyria diagnosis, complications and management

Research was presented on a wide range of of challenges and complications that impact patient care including:

• How the body metabolizes glucose in acute hepatic porphyrias (AIP, HCP, VP)
• The effectiveness of new formulations of sunscreen in blocking visible light and reducing reactions in EPP/XLP
• The safety of hormonal birth control and hormone replacement therapy for acute hepatic porphyrias
• Screening methods to detect liver disease earlier in EPP/XLP
• How likely is it that PCT will relapse
• Mental health challenges in all the porphyrias

...stay tuned for future Summing UPs where we dive deeper into some of this research.

There are still some big questions need more research and attention, including:

• How can we evaluate which medications will be safe in acute hepatic porphyrias (AIP, HCP, VP)?
• How can we effectively treatment the very rare porphyrias like ADP and HEP?
• How can testing for the porphyrias be improved?
• How common are porphyrias? How many people are undiagnosed?
• How can we better support patients in countries without access to testing and specialist care?

The UPA team including staff, board members and members of the Scientific Advisory Board at the ICPP farewell dinner.

Dr. Amy Dickey recognized by the American Porphyria Expert Collaborative (APEX)



At the ICPP, Dr. Amy Dickey was formally inducted as an expert member of the APEX.

In order to be recognized as an expert, APEX members need to have contributed substantially to porphyria knowledge through conducting and publishing research in the porphyrias.

Congratulations Dr. Dickey!

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.

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.

¡ConnectUP ahora en español!

¿Sabías que ahora tienes la opción de unirte a uno de nuestros grupos de ConnectUP en español? Comparte con otros tu historia y experiencia ahora en tu idioma. Regístrate aquí.

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.

Longitudinal Study of the Porphyrias

In order to treat porphyria, you need to understand it. This large study is recruiting 1500 people with all types of porphyria to answer some important questions:

• What are the impacts of porphyria on quality of life and overall health?
• Why do some people with the same type of porphyria have more severe symptoms?
• How does porphyria progress over time?

The study findings will help develop new treatments and improve porphyria care.

Interested in participating? These are the eligibility requirements:

• Have been diagnosed with EPP, XLP, CEP, VP, AIP, HCP, PCT, HEP, or ADP
• Live in the US

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.

OR

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

Join the Porphyria Together Facebook Group!

Did you know that UPA hosts a private Facebook group? Connect with and learn from your fellow patients, join special livestreams with doctors and more!

Join today!

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