Longitudinal Study

All Porphyrias needed to participate! If not you, then who?

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 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.

Contact Edrin Williams today for more information and to be connected with a research coordinator nearest you. Email: edrinw@porphyriafoundation.org