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7201: Longitudinal Study of the Porphyrias


The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias have various symptoms depending on the type, but these can range from neurological symptoms to sun sensitivity. See the descriptions of each type to get more information. The natural history of these disorders is not well described and it is not known why some patients are more severe than others. Therefore, the purpose of this long-term follow-up study is to collect a large group of patients with the different types of porphyria and to provide a better understanding of the natural history of these disorders. The hope is that this information will help in developing new forms of treatment.

The research aims are:

  1. To study the prevalence of specific indicators of disease severity. To study the effects on quality of life and health of various porphyrias.
  2. To determine the relationships between disease severity and various biological characteristics, genetic information, and environmental factors.

About this Study

This is an observational, longitudinal study of approximately 1500 individuals with the various types of porphyria. Those participating 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.

Targeted Enrollment

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.

How to participate:

In order to participate in a study, you must personally contact the study coordinator of the participating institution closest to you by phone or e-mail. Please use the information to the right to inquire about participation.