Longitudinal Study of the Porphyrias
Icahn School of Medicine at Mount Sinai
Summary
The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.
Description
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. The most common manifestations are related to accumulation of intermediates in the pathway and usually occur as acute neurological attacks, or cutaneous photosensitivity. Multiple mutations have been identified in each of the porphyrias. The risk of disability or death from these disorders is significant, in part because diagnosis is often delayed due to lack of adoption of diagnostic testing in clinical practice. Moreover, t…
Eligibility
- Age range
- 1+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Individuals with a documented diagnosis of a porphyria. * For each type of porphyria, the inclusion criteria are based on * Biochemical findings, as documented by laboratory reports (or copies) of porphyria-specific testing performed after 1980 (Absolute values are preferred for diagnostic biochemical thresholds. Fold increases in comparison to an upper (or lower) limit of normal (ULN or LLN) are also acceptable, but are complicated by considerable variation between laboratories in normal limits. Equivocal biochemical measurements may require confirmation by a consort…
Locations (15)
- University of Alabama, BirminghamBirmingham, Alabama
- University of California, Los AngelesLos Angeles, California
- University of California, San FranciscoSan Francisco, California
- University of MiamiMiami, Florida
- University of Illinois at ChicagoChicago, Illinois
- Massachusetts General HospitalBoston, Massachusetts