Ongoing Research

If you are interested in learning more or participating in any of these studies, contact UPA at or 800-868-1292.

Currently Recruiting

Clinical Trials

Clinical trials are studies testing new or experimental potential treatments for the porphyrias. These studies are important because they playing a key role in the development and FDA (Food and Drug Administration) approval of new therapies. 

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

  • 8 of 10 anticipated study sites are now active and accepting participants!
  • 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.

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.



Observational Studies

Observational studies look to understand more about the complications and issues people with the porphyrias experience. These studies are important because they contribute to the overall knowledge and progress of the understanding of the porphyrias. The United Porphyrias Association is the exclusive advocacy organization affiliated with the Porphyrias Consortium. We are pleased to be able to connect you with a porphyria center to participate in research.

Study Short Name Summary Who can participate? Sponsor (with link)
Longitudinal Study of the Porphyrias (7201) Long-term study to learn more about the disease course and quality of life for all the porphyrias Anyone (adults and children) with a confirmed diagnosis of a porphyria The Porphyrias Consortium
Online AHP Drug Database (7208) To collect information on acute attacks that may have been caused by a medication Anyone with a confirmed diagnosis of an AHP The Porphyrias Consortium
AIP Interviews 60-Minute interview with porphyria specialist to discuss patient experience Anyone with a confirmed diagnosis of an AIP The Porphyrias Consortium
AIP Gene Modifier Study (7213) Study to find other genes that may make a person with AIP more or less likely to develop acute attacks Anyone with a confirmed diagnosis of an AIP The Porphyrias Consortium
EPP/XLP Gene Modifier Study Study to identify genetic factors associated with differences in light sensitivity among patients with EPP and XLP Anyone with a confirmed diagnosis of EPP or XLP The Porphyrias Consortium

Other studies may be available at

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