CompletedNot Applicable

Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

United States150 participantsStarted 2011-11

Plain-language summary

The purpose of this study is to identify the biochemical/genetic defects in erythropoietic protoporphyria (EPP). People with EPP have skin sensitivity to sunlight and occasionally develop liver disease. In this study, the investigators hope to learn the nature of the biochemical/genetic defects in EPP because this may help explain the severity of these clinical features.

Who can participate

Age range7 Years

SexALL

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Inclusion criteria

✓. Enrollment in the Longitudinal Study of the Porphyrias with a diagnosis of EPP
✓. An individual or parent/guardian who is able to give written informed consent or assent, as appropriate -

Exclusion criteria

✕. Patient is not enrolled in the Longitudinal Study of the Porphyrias
✕. Patient is under the age of 7
✕. Patient is cognitively impaired
✕. Patient refuses to have blood drawn for establishing lymphoblast line -

What they're measuring

Mitoferrin-1 expression

Timeframe: once at study enrollment

Trial details

NCT IDNCT01880983

SponsorUniversity of Alabama at Birmingham

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2020-12-31

View on ClinicalTrials.gov More Erythropoietic Protoporphyria (EPP) trials