Latest News

In addition to Ongoing Research, here are current studies that need patient support!

EPP/XLP Recruiting volunteers for new EPP and XLP research study

Study Name: Effect of Oral Cimetidine in the Protoporphyrias

Dr. A. Dickey at Massachusetts General Hospital, Dr. K. Anderson at the University of Texas Medical Branch, and Dr. H. Bonkovsky at Atrium Wake Forest Baptist Health are currently recruiting patients with EPP who are 15 years of age or older for a study investigating whether taking oral cimetidine pills can affect your EPP or XLP symptoms. The study will test whether Cimetidine (a medication normally used to treat gastrointestinal issues such as ulcers or acid reflux) can reduce the level of protoporphyrin in your blood, and if it can affect your symptoms.

The entire study will last 9 months. For 4 months of the study, participants will be asked to wear a wearable light sensor and respond to brief surveys send by text message. In some cases, the entire study may be able to be completed with telemedicine visits.

Please contact the United Porphyrias Association (UPA) on 1-800-868-1292 or email info@porphyria.org for more information.

Note: Participants can be on Scenesse (afamelanotide) for this study if symptoms still occur within approximately 30 minutes of bright light exposure.

Erythropoietic Protoporphyria (EPP)

Disc Medicine has announced a Phase 2 clinical trial for participants with Erythropoietic Protoporphyria (EPP).

A Randomized, Double-blind, Placebo-Controlled Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and Protoporphyrin IX (PPIX) Concentrations in Participants With Erythropoietic Protoporphyria (EPP).

Ten study sites are anticipated
62 participants (age 18+)
Potential enrollment for adolescents ages 12-17
24-week trial
Oral medication (Bitopertin)
Inclusion/Exclusion criteria will apply
Must reside in the US

For detailed information visit www.clinicaltrials.gov or click here.

Disc Medicine is a Massachusetts-based pharmaceutical company focused on Hematology.
To read the press release, click here.

To learn more, contact United Porphyrias Association at 800-868-1292 or email kristen@porphyria.org. UPA will connect you with a study site when recruitment begins.

Acute Hepatic Porphyria

Exit Interview for Givosiran/Givlaari

The United Porphyrias Association (UPA) is collaborating with Alnylam Pharmaceuticals and RTI Health Solutions (RTI-HS) to identify individuals with acute hepatic porphyria (AHP) who are interested in participating in an interview study conducted by RTI-HS (on behalf of Alnylam Pharmaceuticals).

You qualify for this one-time 60-minute telephone interview study if you…

Participated and completed an Alnylam Pharmaceuticals clinical trial for givosiran (the Phase 1/Phase 2 Open Label Extension or “ENVISION” trial), and
Continued to take, and currently take givosiran (GIVLAARI®)

The objective of these interviews is to capture, in the patients’ own words, the symptoms and impacts of AHP and their experiences over the time they have received givosiran.

Contact Kristen Wheeden by email or telephone: Kristen@porphyria.org or 800-868-1292

Medication Study to Inform Drug Safety

The NIH-Supported Porphyrias Consortium has launched an online observational study to collect information on acute porphyria attacks that may have been caused by a medication. The “Evidence-Based Assessment of Medication Sensitivity in Acute Hepatic Porphyria” requests patient and caregiver reports on suspected medication/drug-induced acute porphyria attacks, as well as safe use of drugs previously labeled "unsafe" or with unknown risk.

The goal of this project is to create an updated list of medications that are risky or safe for people with one of the acute porphyrias.

After consenting, participants 18+ will be provided a unique web link to complete the initial survey. Participants will be encouraged to update their surveys when they have new information to report.

To participate, please contact United Porphyrias Association on info@porphyria.org or call 800-868-1292.

EPP/XLP

Erythropoietic Protoporphyria Interview Research Study

* 2 slots remaining

We are looking for ~ 20 adults and adolescents with Erythropoietic Protoporphyria (EPP) or X-linked protoporphyria (XLP) in the US and Canada who are at least 12 years of age and speak English.
If you qualify for the study, you will be asked to participate in one Zoom interview that will last no more than one hour.
During the interview, you will be asked questions about symptoms and impacts you may have experienced as a result of having EPP or XLP. You will also be asked to complete and provide feedback on several questionnaires during the interview.
The interview will be conducted by a member of the project team from Health Outcomes Solutions, a consulting group specializing in this type of research.
Each interview will be scheduled at a time that is convenient for you, including during the day, during the evening, or on weekends.
After you complete the interview, you will receive a US$150 Amazon gift card for your time.

Upcoming

Stay tuned for several studies related to:

CEP
EPP pediatric/caregiver interviews
EPP clinical trials, and
AHP Patient-Reported Outcomes

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The excitement in porphyria is building as research projects grow – don’t miss an opportunity to participate!