Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact

Completed

Conditions studied: Erythropoietic Protoporphyria, EPP, X-Linked Protoporphyria, XLP, XLPP, X-Linked Dominant Erythropoietic Protoporphyria, XLEPP, XLDP

In brief

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.

Key facts

Study ID

NCT01688895

Run by

Icahn School of Medicine at Mount Sinai

People needed

150

Starts

2012-07-01

Expected to finish

2019-07-01

Last updated by the study team

2020-04-17

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• All subjects must also be enrolled in the Longitudinal Study of the Porphyrias.
• Willing to sign informed consent form
• 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).
• Molecular findings - one of the following:
• A disease causing FECH mutation trans to the IVS3-48C>T low expression FECH allele
• Two disease-causing FECH mutations
• 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.

You may not qualify if…

• cases 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 [Gibson 2000].
• patients with a prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.

Where it is running

• University of Alabama, Birmingham — Birmingham, Alabama, United States
• University of California, San Francisco — San Francisco, California, United States
• Icahn School of Medicine at Mount Sinai — New York, New York, United States
• Wake Forest University Health Sciences — Winston-Salem, North Carolina, United States
• University of Texas Medical Branch — Galveston, Texas, United States
• University of Utah — Salt Lake City, Utah, United States

Full record on ClinicalTrials.gov

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