Latest News

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

Disc Medicine – Phase 2 Clinical Trial in EPP

Participant recruitment is now underway for a Phase 2 clinical trial on Bitopertin, an investigational treatment for Erythropoietic Protoporphyria.

This is 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).

Fast Facts

10 study sites across the US
75 participants needed
Patients ages 18+ are eligible
Inclusion/Exclusion criteria will apply
The study drug is an oral medication
Study includes an optional open-label extension

Please click here to submit a confidential interest form.

It will be used to contact potential participants and manage referrals. Interested patients can also email info@porphyria.org or contact UPA on 800-868-1292.

Cimetidine Research Study in Patients with EPP and XLP

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. Click here to read about it.

To learn more about study details, contact UPA on 1-800-868-1292 or info@porphyria.org to learn more.

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!