US Natural History Study of Porphyrias Now Recruiting Participants

A long-term study seeking to deepen the understanding of the natural history of porphyrias — both acute, typically affecting the nervous system, and cutaneous, which causes skin symptoms — is recruiting participants.

The Longitudinal Study aims to assess the prevalence of specific indicators of disease severity, and to evaluate how the different types of porphyrias impact patient’s quality of life and health. In addition, it will investigate the links between disease severity and biological features, genetics, and environmental factors.

The overarching goals are to help advance new treatments and elucidate why symptoms range from neurological complications to sun sensitivity.

Approximately 800 patients, both adults and children, with a confirmed diagnosis of any of the different types of porphyrias, are invited to enroll.

Excluded from the study are individuals with elevated levels of porphyrins due to other conditions, such as liver and bone marrow diseases, or with a prior diagnosis of porphyria not confirmed by medical records or repeat biochemical/DNA testing. Porphyrins are precursor molecules of heme — essential for the transport of oxygen in the blood — that build-up to toxic levels in porphyria.

The Longitudinal Study will be conducted across nine centers in the U.S. These are the University of Alabama at Birmingham, the University of California at San Francisco, the University of Miami Miller School of Medicine, in Florida, the University of Illinois at Chicago, the Ichan School of Medicine at Mount Sinai, in New York, the Wake Forest School of Medicine, in North Carolina, the University of Texas Medical Branch at Galveston, the University of Utah in Salt Lake City, and the University of Washington School of Medicine in Seattle.

Those interested in joining need to contact the study’s coordinator at the institution of their choice either by phone or e-mail. The contacts of each coordinator are available here.

Edrin Williams, director of patient services for the American Porphyria Foundation (APF), can be reached via email ([email protected] ) or phone (301-312-8741) to help contact a study coordinator.

Those enrolling in the natural history study will be evaluated annually for five years or longer, if they agree. Participation includes annual visits or contacts, and collecting samples — blood, cells from inside the mouth, saliva, and urine. The type of sampling will vary from person to person according to their type of porphyria.

Participants will have to agree to have their samples stored and used in research. In addition, all are required to grant access to their medical records. Patients also need to provide information about their personal medical history as well as a family history, and to complete a questionnaire of symptoms and quality of life.

The APF encourages current participants to update their information with the applicable research coordinator, if needed.

The Longitudinal Study is an initiative of the Porphyrias Consortium, which is supported by the National Institute of Health (NIH) and includes six porphyria centers and seven porphyria satellite centers across the U.S.