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Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact)

Background

The Erythropoietic Protoporphyrias include EPP and XLP. (Together they are the third most common porphyria and the most common in children.

The purpose of this study is to learn more about EPP and XLP and how to better treat people with them.

Researchers will observe participants over several years to learn about:

  1. How often certain signs that indicate how bad the disease is occur as they are related to skin symptoms. For example, levels of protoporphyrins effects on the liver and other tissues affected by erythropoietic protoporphyrias.
  2. What are the psychosocial effects of living with EPP/XLP.

This is a longitudinal study (study taking place over 5 years) of about 150 individuals with EPP. Participants enrolled in this study should also be enrolled in the Longitudinal Study of the Porphyrias. Those participating in this study will be evaluated yearly. If possible, the first study visit should happen at one of the Porphyrias Consortium clinical sites (see the list of participating sites below).

Participation in this study will involve the following:

  1. Accessing the information that you provided for the “Longitudinal Study of the Porphyrias”, including the results of the physical examinations, medical history, family history, questionnaires, and the results of laboratory tests;
  2. Review of your medical records at each study visit; the study doctor may request medical records in between study visits to see how you are doing or if there is a medical concern that may be related to your porphyria or to the study;
  3. Collection of samples, including:
    • blood (about 2-4 tablespoons)
    • urine (about ¼ cup) for testing and storage.
  4. Completion of quality of life questionnaires

Testing on these samples may include measurement of certain products found in the blood and urine of people with porphyria and DNA analysis to find the mutation (or change) in the porphyria gene that is causing your porphyria. These samples will be collected at your first study visit, however, we may ask for additional samples later.

Targeted Enrollment

To be eligible to participate, you must:

You are not eligible to participate if you have:

  • You have elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases.
  • A prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.

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 below to inquire about participation.

Alabama

University of Alabama at Birmingham
Toni Seay, Coordinator
205-934-7332
E-mail: porphyriacenter@uab.edu or tamartin@uab.edu

California

University of California at San Francisco
Yuvraaj Kapoor
Phone: (415) 476-8405
E-mail: Yuvraaj.kapoor@ucsf.edu

New York

Ichan School of Medicine at Mount Sinai, New York
Hetanshi Naik, Coordinator
212-241-7699
E-mail: Hetanshi.naik@mssm.edu

North Carolina

Wake Forest School of Medicine, Winston-Salem
Dee Faust, Coordinator
336-713-1442
E-mail: delannin@wakehealth.edu

Texas

University of Texas Medical Branch, Galveston
Csilla Hallberg, MD, Coordinator
409-772-4661
E-mail: porphyria.center@utmb.edu

Utah

University of Utah, Salt Lake City
Sharada Dixit, Study Coordinator
801-587-7525
E-mail: Sharada.Dixit@hsc.utah.edu