September UPDATE

Dear Friend,

As we step into fall, we’re gearing up for an exciting season filled with major events and fresh opportunities to connect, learn, and share together.

Here’s what’s inside this issue:

• Exciting news for CEP: First ever clinical trial recieves funding; FDA to attend CEP patient meeting
• Sun Escape 2026: Applications open October 10
• New education and connection opportunities: webinars, Facebook Live Q&A, and ConnectUP meetings
• Call for artists! Join UPA's team for a rare disease art challenge
• Patient stories: Aida's art, Sima on living with AIP
• Advocacy update: What a potential government shutdown could mean for our community
• Research opportunities: get involved in porphyria research

... and so much more! Read to the end for a special contest.

September 2025 memories

Always remember- you are not alone, and we are here for you 💜

Warmly,

The UPA Team

Congenital Erythropoietic Porphyria (CEP) is one of the rarest forms of porphyria. To date there are no approved treatments for CEP, yet ongoing efforts are creating new hope for the community.

Special CEP Patient-Led Meeting on October 14 will be attended by the U.S. Food and Drug Administration

In an important milestone for the CEP community and rare disease advocacy, United Porphyrias Association will host an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting on Congenital Erythropoietic Porphyria (CEP)! 

The goal of this meeting is to provide the U.S. Food and Drug Administration (FDA), product developers, clinicians, and academic researchers an opportunity to hear perspectives from individuals with CEP on the health effects and daily impacts of their CEP, treatment goals, and decision factors considered when seeking out or selecting a treatment.

• Date: Tuesday, October 14, 2025
• Time: 10:00 AM to 2:30 PM ET
• Location: Hilton Garden Inn, Bethesda, MD or online via Zoom

Do you have a connection to CEP? We want to hear your voice!

The main focus of the meeting is two CEP Patient Panels of five patients/caregivers. After each panelist shares some initial remarks, there will be a town hall style discussion where all CEP members in attendance will be able to contribute. 

If you or a loved one is impacted by CEP, anywhere in the world, we want to include your voice in this meeting. Please register here.

First Clinical Trial in CEP Receives FDA Funding

The U.S. Food and Drug Administration (FDA) has awarded a four-year $2.6 million grant to the Icahn School of Medicine at Mount Sinai to launch the first clinical trial ever conducted for CEP!

This landmark trial will evaluate whether oral ciclopirox, a medication already used safely in for other conditions can offer any benefit for CEP.

Study Investigators:

• Robert J. Desnick, MD, PhD (Icahn School of Medicine at Mount Sinai),
• Angelica Erwin, MD, PhD (Cleveland Clinic),
• Hetanshi Naik, PhD (Stanford University)

Agency:

• FDA Office of Orphan Products Development

This trial represents a committed effort from leading experts to bring therapeutic options to a part of our community that has long faced an unmet medical need. UPA will actively support study recruitment, working closely with researchers to ensure the CEP community is informed and represented.

Together, we’re moving CEP research forward.

Join us Thursday April 30th to Sunday May 3rd for our epic sun safe camp experience at Victory Junction in North Carolina!

We’re so happy to be back for the third year of one of our favorite weekends - a time to connect, relax, and make memories together. Every activity is planned with sun safety in mind. Families can look forward to archery, horseback riding, ziplining, fishing, a petting zoo, swimming in the outdoor pool, and plenty of time to laugh, share, and bond with others in the community.

Applications for 2026 opens on October 10

Beginning Friday, October 10th through to December 6th, Shadow Jumpers and the United Porphyrias Association will begin accepting applications to fill our 32 family slots and 40+ volunteer positions.

Families must have a photosensitive child between the ages of 6-16. Volunteers must have a photosensitive condition themselves or be personally connected to one. Space is limited, not all families and volunteers will be accepted.

Accommodations, meals and all activities are at no cost to families and volunteers! Camp families qualify for 100% reimbursement of their travel expenses to and from camp while our volunteers can receive up $500-$600 in stipends.

We are counting down the days until we can see you in person!

The Patient & Family Conference in Arlington, VA is a weekend for you! As an event organized by patients, for patients and families, everything is focused on creating a space where you can connect, learn, and feel truly understood in a safe and supportive environment.

Sessions include:

• Patient Stories
• Q&A with porphyria experts
• Tips and strategies for managing day-to-day
• Harmonizing your health care
• Updates on from industry partners on treatments
• Mental health and taking care of yourself

We'll also have lots of time for you to connect with your porphyria friends, including ice breakers, games and a Saturday night dance party!

Registration is $25 per family. All sessions, meals and activities are included!

When?

Saturday, October 11 at noon- Sunday, October 12, 2025 at noon

Where?

Westin Arlington, Arlington, VA

Need help getting there?

$250 travel stipends are available. Learn more and apply here.

Mind, Body & Nerves: Managing Daily Life 
with Acute Hepatic Porphyria

Chronic symptoms such as pain, weakness, numbness, insomnia, and fatigue can take a significant toll on daily life for those living with acute hepatic porphyria (AIP, HCP, VP, ADP).

Join neurologist and porphyria expert Dr. Mohamed Kazamel (Mayo Clinic) for an informative webinar that will explore: 

• Why chronic porphyria symptoms occur
• Current treatments that may help manage these symptoms
• Practical strategies to cope day-to-day

Following Dr. Kazamel’s presentation and Q&A, you’ll have the opportunity to share your own experiences, tips, and strategies and to help highlight the areas where more research and resources are urgently needed. 

• Date: Sunday, November 9, 2025
• Time: 6:00-7:00PM ET (find your local time here)
• Location: Zoom- register for link

Facebook Live Q&A with Dr. Bruce Wang

Dr. Bruce Wang, Porphyria Expert from UCSF, will be taking your questions LIVE on our Porphyria Together Facebook group.

• Date: Saturday, November 15, 2025
• Time: 12:00pm ET (see your local time)
• Location: Porphyria Together Facebook Page, join now to participate 

Connect UPs are safe, friendly online meet ups where you can connect with others who understand what you're going through.

Cutaneous Porphyrias

Sunday, September 28 at 3 PM ET

Topic: Bring your Questions and Concerns

Location: Zoom- register for the link

Acute Porphyrias

We had some wonderful discussions this month! A big thank-you to Sean for sharing ideas in Passing Time During a Flare and to Lauren for guiding our conversation on Staying Fit. Both sessions brought our community closer together and addressed real needs we face every day.

Join the Connect UP mailing list for the next discussion topics and dates!

Our new partner, UPA Latin America is hosting it's first meeting on Saturday, October 4th! We are thrilled to see our community expand and more information and support being offered to our porphyria friends around the world 💜

¡Nuestra nueva organización aliada, Porfirias Unidas Latinoamérica, celebrará su primera reunión virtual el próximo sábado 4 de octubre!

Estamos emocionados de ver cómo nuestra comunidad sigue creciendo y de que más información y apoyo estén llegando a nuestros amigos con porfiria alrededor del mundo.

Detalles de la reunión

• Fecha: sábado 4 de octubre
• Hora: 3 PM (Perú/Colombia), 2 PM (México/ Centroamérica), 5PM (Argentina/Chile/Uruguay)
•  Virtual (enlace de acceso se enviará tras la inscripción)

¡Únete al boletín informativo de UPA Latam, explora sus recursos  y mucho más en porfiria.lat!

UPA is forming a team of patient artists called Unseen Warriors by UPA to highlight the importance of research and advancing treatments for multiple rare diseases as part of a challenge hosted by the NIH National Center for Advancing Translational Sciences.

If you’re a patient with porphyria and you create any kind of art- painting, music, writing, photography, you name it, contact Katri to be part of our team!

Deadline to apply for UPA Team: October 15, 2025

Let’s show the world the power, talent, and voices of our community! 

Porphyria Voices is a UPA blog where we share experiences, insights, and advice from the porphyria community. Discover valuable knowledge, foster connections, and join us in raising awareness to empower and unite our porphyria family. 

Painting Through Porphyria with Strength and Purpose

“The Jack Sparrow portrait proved something to me: my hands, despite everything, can create incredible detail.”

Everything in my life changed because of porphyria, but art became the light that helped me keep going. I first discovered my love for drawing when I was a child and picked up a pencil. From that moment, drawing wasn’t just a hobby — it became my closest friend and the companion of my loneliest hours.

There were many times I couldn’t hold a pencil because of wounds on my fingers. I would wait, sometimes impatiently, for the sores to heal just so I could draw again. Those pauses were painful, but each time I returned to my sketchbook, it felt like reclaiming a piece of myself.

Do you have a story to tell or an experience to share? Reach out to our community engagement team at info@porphyria.org to share your idea!

Meet Sima, Learning to Live with AIP

"The path to a diagnosis was fraught with fear and uncertainty. But finally putting a name to my suffering—AIP—was the first step toward reclaiming my life."

I was diagnosed in 2023 with Acute Intermittent Porphyria (AIP).

It started with a very severe stomachache—like being kicked and then stabbed several times in my stomach. Along with the pain came constipation, nerve pain that felt like a burning electric thread running down my body, and shoulders that felt like they were on fire. I had numbness in my stomach, back, and upper legs, and I couldn’t sleep day or night.

The crisis escalated quickly. I was taken to the emergency room because of muscle twitches. At first, doctors were uncertain. They thought it might be Cushing’s syndrome, atypical Guillain-Barré syndrome, encephalitis, or that I needed a psychological evaluation. By the time I was in the hospital, I had developed complete paralysis, dysphagia (trouble swallowing), and terrible hallucinations.

Want to 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.

Possible Government Shutdown and What It Means for Porphyria

By UPA Legislative Advocacy Manager Keili McEwen

With the September 30th federal funding deadline approaching, a US government shutdown remains possible. If an agreement is not reached, many federal operations may temporarily close or scale back.

What could be affected?

Essential health programs such as Medicare, Medicaid, and Social Security will not be interrupted. Patients with porphyria will continue to access their regular healthcare coverage, prescriptions, and treatments without disruption.

For the porphyria community, the main impacts would come through federal agencies that support research and patient resources.

Why this matters

While day-to-day medical care remains secure, porphyria patients and families depend on continued progress in research and treatment development. Even short delays can ripple into longer timelines for grants, clinical studies, and regulatory approvals.

As part of my role with UPA, I am staying up to date on developments related to the shutdown and the impact on porphyria patients and will share updates as they become available.

Discover GIVLAARI, is an educational event presented by an Alnylam Patient Education Liaison (PEL), that will help you better understand AHP and how GIVLAARI may help. At these events you'll learn about how patients prescribed GIVLAARI get started and hear from a patient who is taking GIVLAARI. More information about the program is available here

Online on October 22, 2025

Host/PEL & Patient: Kim Bischel & Amalia

Additional Featured Speaker: Angelika Erwin, MD, PhD

• 
  6:00 – 8:00 PM EDT
• Register

Upcoming In-Person Events

Tampa, FL on October 1, 2025

Host/PEL & Patient: Kim Bischel & Colin

• 6:30 – 8:30 PM ET
• Ocean Prime (2205 North Westshore Boulevard, Tampa, FL 33607)
• Register

Salt Lake City, UT on October 7, 2025

Host/PEL & Patient: Barrie Devaney & Donna

• 6:00 – 8:00 PM EDT
• Ruth's Chris Steakhouse (275 South West Temple Street, Salt Lake City, UT 84101)
• Register

Mesa, AZ on November 12, 2025

Host/PEL & Patient: Barrie Devaney & colin

• 6:00 PM ET
• Rodizo Grill-Mesa (1840 South Val Vista Drive, Mesa, AZ 85204)
• Register

Porphyria patients are at the center of all porphyria research! Your participation is essential to gaining a better understanding of porphyria, developing new treatments and improving diagnosis and care.

Short-Term Clinical Trial Opportunity for Adults with EPP

The GATEWAY Phase 2 Study is enrolling adults with Erythropoietic Protoporphyria (EPP) to test a potential new treatment.

Some Details:

• The study takes place in Phoenix, Arizona
• Travel, hotel, and meals are covered for you (and a caregiver/travel partner, if wanted)
• US and international participants welcome
• 9 Days at the study site + travel days
• Compensation provided for your time

You may qualify if you:

• Are 18 or older with a confirmed EPP diagnosis (EPP only)
• Are a non-smoker
• Other inclusion/exclusion criteria will apply

• NEW! Participants no longer need to meet the following criteria: experience symptoms within 40 minutes of sun exposure (can be on an approved drug, cannot be in another clinical trial)

To learn more: Reach out to us at info@porphyria.org.

Survey Opportunity for Acute Hepatic Porphyrias (AIP, HCP & VP)

An interview study is underway to understand patient experiences with acute hepatic porphyria.

We are looking for individuals ages 15 and over in the United States or Canada who have acute hepatic porphyria (AHP).

As part of this study, you will complete a one-on-one approximately 90-minute telephone or videoconference interview scheduled at a time that works well for you, and you will later fill out three online questionnaires that take approximately

20 minutes to complete.

NEW! You will receive $240.00 USD or Canadian equivalent as compensation for your

time to participate.

Please note, you/your child may not be eligible for the study if you/your child: have taken

GIVLAARI (givosiran) or hemin prophylaxis within the past six months; reside in Alberta,

Saskatchewan or Newfoundland and Labrador; are between the ages of 15-17 and reside in

Quebec; or have certain medical conditions.

Phase 3 Clinical Trial of Bitopertin for EPP and XLP

Are you or your child 12 years or older and diagnosed with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP)? If so, an exciting study may be an option for you!

Disc Medicine is conducting the APOLLO Study to evaluate Bitopertin, an investigational oral medication designed to reduce protoporphyrin IX levels and potentially ease symptoms related to sun exposure.

Key Details:

• Participants needed at U.S. study sites- new sites are open in Seattle, WA and Galveston, TX
• Travel & related expenses covered by the study sponsor

If you're interested in learning more, please fill out the Study Interest Form—your responses are completely confidential and only used to determine interest in receiving further details.

Have questions? We’d love to talk! Call 800-868-1292 or email info@porphyria.org for more information.

Get involved in 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

PSST...did you catch it?

Somewhere in this eNews, a mysterious fuzzy friend made a quiet debut🟣

Our new friend will be formally revealed to the porphyria community at the Patient & Family Conference this October!

Think you’ve uncovered his hiding spot? Hit reply and tell us where. Correct guesses will be entered into a drawing to win a prize!