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Longitudinal Study Underway! We still need YOU!

Longitudinal Study Underway   The Porphyria Longitudinal Observational Research Project is underway.  The objective of this protocol is to conduct a five year, multidisciplinary investigation of the natural history, morbidity, and mortality in people with porphyrias.  In addition, the purpose is a long-term follow-up study of a large group of patients with the various porphyrias, which will provide a better understanding of the natural history of these disorders, as affected by available therapies, and to aid in developing new forms of
treatment.  You have the opportunity to be part of this important project  and help advance research by
answering the most important and often perplexing questions about porphyria. As part of the research,
the patient volunteers will be followed longitudinally for long term survival, development of disease complications and outcomes of commonly used treatments, as well as more advanced treatments, such as liver or bone marrow transplantation.  Researchers will seek to identify biochemical features (biomarkers) that may predict future symptomatic episodes so that interventions can be initiated before symptoms develop.  The patients enrolled in this study will also be a source for other studies, including mechanistic investigations and clinical trials.

The questions researchers want answered include:
a.) In a longitudinal cohort, what is the prevalence of specific morbid indicators of disease severity, including neurovisceral and cutaneous manifestations, levels of porphyrin precursors and porphyrins, quality of life, long term effects on the liver, kidneys and other tissues, and case-fatality associated with the various forms of porphyria?
b.) What are the relationships between disease severity and progression and various biomarkers-biological characteristics, such as genotypes, causative and contributing endogenous and environmental factors and levels of porphyrin precursors and porphyrins?  
c.) What is the safety and efficacy of currently used and new therapies for the porphyrias, especially in the long term?


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Amazing patient advocacy....and needed media for this issue. Thank you Terri Witter!


The APF asked our Facebook friends for their top questions they would ask a porphyria expert.
 The following questions were submitted to Dr. Wang for his responses ... Q. Does EPP give us bad teeth? Also, do people with EPP get stomach pains or is that with the other porphyias? A. The porphyrin that accumulates in EPP patients is protoporphyrin IX, which does not cause discoloration to teeth or abdominal pain.
 The type of porphyria that leads to discolored teeth is Congenital Erythropoietic Protoporphyria. The porphyrias that lead to episodic abdominal pain attacks are the acute hepatic porphyrias. Q. I have EPP and I have a severe reaction on my hands and lips. Do I seek urgent care? Also, what can you even do when you burn your lips? A. The acute reactions to sunlight in EPP can be very severe and, unfortunately, there are not many effective options to treat the symptoms. Nonsteroidal anti-inflammatory drugs (NSAIDS such as ibup…