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
c.) What is the safety and efficacy of currently used and new therapies for the porphyrias, especially in the long term?