CompletedNot Applicable

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

United States150 participantsStarted 2012-07

Plain-language summary

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.

Who can participate

SexALL

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Inclusion criteria

✓. 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.

What they're measuring

The Hospital Anxiety and Depression Scale (HADS)

Timeframe: 1 weeks

Illness Perception Questionnaire Revised (IPQR)

Timeframe: 1 week

EPP-Specific Tool

Timeframe: 1 week

Trial details

NCT IDNCT01688895

SponsorIcahn School of Medicine at Mount Sinai

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2019-07-01

Results submitted2020-03-05

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