DECEMBER UPDATE

Dear Advocate,

As 2023 draws to a close, we celebrate how far we've come – and look forward to a 2024 filled with hope and promise.

Years ago, it would have been hard to believe that we'd have multiple treatment options available or in development in both the Acute Hepatic Porphyrias and Erythropoietic Porphyrias. With two ongoing clinical trials, new research on pain and quality of life, new treatment guidelines and more, the future has never looked brighter for porphyria. Stay tuned for a 2024 full of new programming from UPA.

We are blessed with a dedicated Scientific Advisory Board focused on improving the lives of our patient community and a President’s Council that guides our efforts. Most of all, we are appreciative of your support as we continue to serve you. 

Here are your updates for December. We'll see you in the new year as together we continue working towards a better world for everyone affected by porphyria 💜.

Warmly,

The UPA Team

The holidays can be a time of joy and connection with loved ones, but they can also be hard for many of us in the porphyria community. 

Remember to be gentle with yourself this season. It is okay to set limits, to take breaks and to look after your own needs: self-care is the greatest gift you can give yourself.

We wish you all a happy and healthy holiday season!

Make the future bright for porphyria! Please consider making a 2023 donation to help advance porphyria awareness & diagnosis, patient advocacy & support, further porphyria research and improve access to current and emerging treatments.

The United Porphyrias Association is a registered 501c(3) and your contribution is tax deductible.

Thank you for your generous support!

On Rare recently released this episode where they spoke to Jay about his experience with EPP.

From the long road to diagnosis to the mental energy required to manage your daily sun exposure- he shines a light on some of the everyday realities of living with EPP.

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 Dr. Herbert Bonkovsky

"We continue to learn many things from patients. With rare diseases, you could call every patient a clinical trial of one because each one is unique. It is important to listen to them and try to address their symptoms."

Dr. Herbert Bonkovsky's passion and care are a gift to the porphyria community. He was the first to use hemin to treat an acute porphyria attack 1970 and continues research, care for and advocate for porphyrias.

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

My name is Herbert Bonkovsky and I’m currently Professor of Medicine and Molecular Medicine and Translational Science at Wake Forest University School of Medicine. I'm also an attending physician at Atrium Health Wake Forest Baptist and based in Winston-Salem and in Charlotte, NC.

I've worked on the porphyria from the time I was a Clinical Associate at the National Institutes of Health in the late 60s to early 70s. At the time I worked in a laboratory that was focused on understanding the regulation of porphyrin and heme metabolism, and particularly the role of ALA-synthase which is the first and rate-controlling enzyme for porphyrin and heme synthesis.

I was the first person to give intravenous heme to a patient with acute porphyria in 1970. It is still the treatment of choice for acute attacks of porphyria. I also was the first to demonstrate that a deficiency in the enzyme ferrochelatase is responsible for EPP.

I work chiefly in hepatology and see patients with many types of liver disease, but I still have an active interest in porphyrias and trying to help patients with porphyria.

Did you miss Dr. Dickey's presentation about the new treatment guidelines for EPP and XLP?

Learn more about the recommended practices for diagnosing, treating, managing and monitoring the protoporphyrias. Check it out!

More recordings to come- check our Experts in Action page or follow us on social media to catch them all!

Rare Diseases International (RDI) is the global alliance of people living with a rare disease of all nationalities across all rare diseases. We are thrilled to be their newest member!

RDI’s mission is to be a strong common voice on behalf of rare disease patients around the world, to advocate for rare diseases as an international public health priority and to represent its members and enhance their capacities.

Is your skin affected by porphyria?

There are just days left for you to participate in a worldwide study to understand what it is like to live in your skin.

Our partners at GlobalSkin have been working on this initiative for years and are trying to recruit 10,000 dermatology patients worldwide to fill in this 10-20 minute survey.

Help them make their goal and make sure porphyria perspectives are included!

INSPIRE Phase 3 trial for EPP/XLP

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

More details available here. 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

Does your family have more than one person diagnosed with EPP or XLP?

You are invited to participate in a study to investigate why some patients with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) experience more severe symptoms than others.

Eligibility:

• At least two family members (2 years or older) diagnosed with EPP or XLP
• Can be located anywhere in the world- no travel is required!

This study is being performed by Dr. Mark Fleming at Boston Children’s Hospital and Dr. Amy Dickey at Massachusetts General Hospital.

If you're interested, please complete an interest form. You will be contacted with detailed information and next steps.

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.