7207 - EPP: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact

Principal Investigator: CharlesParker
Keywords: Erythropoietic Protoporphyrias Department: Hematology
IRB Number: 00059196 Co Investigator: John Phillips
Specialty: Hematology/BMT
Sub Specialties:

Contact Information


Brief Summary

This is an ancillary study of the Longitudinal Study of the Porphyrias (IRB#45117).

The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) for clinical, biochemical, and genetic studies.  The long-term objectives are (1) to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with erythropoietic protoporphyria, (2) to systematically investigate the psychological effects of the erythropoietic protoporphyrias on children and adults, and (3) to investigate the correlation between the identified genotypes and the resulting clinical presentation, also determining the possible interaction of other genetic markers.

Inclusion Criteria

Inclusion criteria:
1. Enrollment in the Longitudinal Study of the Porphyrias (7201)
2. Willing to sign informed consent form (and provide assent if participant is a minor)
3. Biochemical findings- a marked increase in erythrocyte protoporphyrin [total erythrocyte protoporphyrin >200 ug/dL, or more than 1.5-fold increase    (relative to ULN of 80 ug/dL)], with a predominance of free protoporphyrin (85-100% in EPP and 50-85% in XLP).

4. Molecular findings – one of the following:
     a. A disease causing FECH mutation trans to the IVS3-48C>T low expression FECH allele
     b. Two disease-causing FECH mutations
     c. A gain-of-function ALAS-2 C-terminal deletion/exon 11 mutation (in XLP).

If no mutation is found and subjects fulfill criteria 1-3 they are eligible for enrollment

Exclusion Criteria

1.  Patients with elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases.

2. Patients with a prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.