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Study Description

This is an observational, longitudinal study of approximately 800 individuals with various types of porphyria. Those participants will be evaluated annually for 5 years, or longer if they agree.
Participation in this project will include:

  • Participating in annual visits or contacts.
  • Providing samples, including blood, buccal cells (cells from inside of the mouth), saliva, and urine. The type of samples and amounts may vary from person to person, depending on the type of porphyria.
  • Giving permission for samples to be stored and used for porphyrias research.
  • Granting permission to obtain your medical records.
  • Providing information about your medical history and family history.
  • Completing a questionnaire about your porphyria symptoms and quality of life.

  • Study Weblink: THE PORPHYRIAS CONSORTIUM
  • Study Type: Longitudinal
  • Number of study subjects that have individual level data available through Authorized Access: 198

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

To be eligible to participate, you must:

  • Have a confirmed diagnosis of one of the porphyrias (EPP, XLP, CEP, VP, AIP, HCP, PCT, HEP, ADP)

You are not eligible to participate if you have:

  • Elevations of porphyrins due to other diseases, such as liver and bone marrow diseases
  • A prior diagnosis of porphyria that cannot be documented by existing medical records or repeat biochemical or DNA testing.

Study History

  • Study Activated 11/01/2010
  • Last DSMB review 12/18/2016
  • Next DSMB review scheduled for 12/01/17

Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution