JANUARY UPDATE

Dear Advocate,

We're celebrating 2 years of working together to create a world free from the pain and challenges of porphyria. We have a packed year ahead of us and are excited to share some of those new events and initiatives with you! Read on for more...

We have been proud to support the porphyria and healthcare professional communities. We have heard some great feedback that drives our work:

As a patient with AIP and as someone who is passionate about patient advocacy, the UPA is where I go for all my porphyria news and updates. The UPA has connected me with physicians, researchers and other porphyria patients, providing me with the most meaningful network I could have asked for.

-Lina, AIP Patient

The UPA Patient Day in Bethesda, MD in October 2023 was phenomenal. Porphyria can be such an isolating disease, but being together with others, sharing stories and experiences, advice, support and getting a glimpse into the medical community who are teaching, learning, researching, and fighting for us was amazing. 

Knowing I can reach out to someone who truly cares and will offer anything from a sympathetic ear to solution options, the UPA is there for us. Thank you for all you do! 

-Marianna, EPP Caregiver

I'm so thankful for the UPA! They truly care for patients, caregivers, the community and the next generations! The support given to the clinical teams is unmeasurable 💜

-Dee, Clinical Coordinator

Thanks to UPA, I’ve met many porphyria warriors (patients, caregivers and doctors alike!) who have all banned together under their leadership. I’m proud to be part of the momentum UPA has in the porphyria space and look forward to continuing our hard work!

- Kristina, patient and member of the President’s Council 

Thank you to everyone who wrote in! We're so happy to work with and for you.

Together we can create a world free from the pain and challenges of porphyria. We've come so far in these two years and we're just getting started!

Your family is invited to join us for a weekend of all fun and no sun!

Shadow Jumpers and the United Porphyria Association are teaming up for SUN ESCAPE WEEKEND 2024 happening at Victory Junction in North Carolina from May 3-5, 2024. 

This transformative weekend will bring together 20 kids, ages 6-16, and their families from around the country to celebrate all things Fun and all things No Sun in a way only we know how.   

From archery and zip lining to creative arts and mini games, every aspect of SUN ESCAPE is like camp but will be indoors or in the late evening. 

Even better then the activities will be the opportunity for our campers and their families to connect with others facing similar circumstances with the sun, some for the very first time.  

And parents, however you get there, we’ll cover the bill. For every family attending Sun Escape Weekend, Shadow Jumpers and the UPA will reimburse 100% of the cost.   

We want to make this all fun, no sun and no stress! 

Visit our website for more information about how you can apply to be one of our camp families or a camp volunteer. Applications will be accepted in the order they are received. Team members will respond on a rolling basis and provide additional information after reviewing your application.

Want to attend but you're not a kid anymore? Volunteer!

We’re also looking for 25 adult volunteers with EPP, XLP or CEP to help make this weekend special.

As a volunteer, you’ll have a chance to help kids and families with your condition, connect with your fellow volunteers and maybe try that zipline!  

Check out our website for more information and to apply. 

Mark your calendars!

Dr. Bruce Wang will be taking your porphyria questions live on Facebook on Saturday, February 24 at noon, ET.

Have questions for Dr. Wang?

• Join us live on the Porphyria Together Facebook group
• Send us your question in advance to info@porphyria.org

Porphyria is hard enough… let’s get together to share stories, build community, and have fun!

Mark your calendar for Porphyriapalooza 2024: Inaugural UPA Patient Weekend!

• September 13-15, 2024
• Chicago, IL

Stay tuned for details!

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

Meet Kristen Wheeden, UPA Founder and EPP Mom

All of us doing our important roles can lead to better diagnostics, new therapies and better quality of life for our patient community.  

What’s the history of the UPA, why was it founded? 

In late 2021, porphyria experts in the US saw the need for a transparent, organized patient advocacy organization. They approached me and together we launched the UPA in January 2022.  



Collaboration between patients, caregivers, advocates, expert physicians, industry partners and regulators is necessary to realize advancements in porphyria. All of us doing our important roles can lead to better diagnostics, new therapies and better quality of life for our patient community. 

Tell us a bit about yourself and your connection to porphyria. 

I am a mom of a child with porphyria. I have three boys and my youngest son, Brady, has erythropoietic protoporphyria or EPP. He was diagnosed just after he turned 4 by a pediatric dermatologist, after seeing many other doctors. We were really lucky find that doctor and to get diagnosed relatively quickly...

"Givosiran in acute intermittent porphyria: a personalized medicine approach"

Published in Molecular Genetics and Metabolism

March 2022

Givosiran (Givlaari) is a treatment for acute hepatic porphyrias. In this Summing UP learn more about the real-world experience of 25 patients in France who were treated with givosiran, and how treatment was personalized for each patient.

Summing UP features the latest porphyria research in easy-to-understand summaries that have been reviewed and approved by the UPA's Scientific Advisory Board of porphyria experts.

Visit our Experts in Action page for more Summing UP!

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

Fast Facts:

• First 3 sites opening soon in Boston, MA, Colombus, OH & Los Angeles, CA!
• 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.
• Watch the recording of our virtual information session with Dr. Bruce Wang on November 29, 2023.

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

Cimetidine in EPP and XLP Study

Patients with Erythropoietic Protoporphyria (EPP) or X-Linked Porphyria (XLP) are needed for an FDA-sponsored research study on cimetidine. The study will assess whether cimetidine (a medication normally used to treat gastrointestinal issues such as ulcers or acid reflux) can reduce protoporphyrin IX (PPIX) levels which may impact photosensitivity. 

Participating Study Sites: 

• Dr. Amy Dickey,  Massachusetts General Hospital 
• Dr. Karl Anderson, University of Texas Medical Branch 
• Dr. Herbert Bonkovsky, Atrium Wake Forest Baptist Health 

Fast Facts: 

• 3 study sites in the US 
• 20 total participants needed 
• Patients ages 15+ are eligible 
• Patients currently on Scenesse (afamelanotide) are eligible 

Of interest, a recent study in Denmark indicated the potential for cimetidine to lower protoporphyrin IX (PPIX) in patients with erythropoietic protoporphyria. See the research article 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.

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!

Connect UP Small Patient Groups

Connect Up small group meetings and online for patients and caregivers to connect and socialize with others in a safe and inclusive environment.

Connect UP groups are peer-led and offered regularly over Zoom.

To join a Connect Up group for your type of porphyria- please fill out an interest here.

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