Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)

Recruiting Observational Study
Erythropoietic Protoporphyria (EPP) X-Linked Porphyria (XLP)
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
12 and older
Sex
Any
Study type
Observational
Participants needed
50 (estimated)
Sponsor
Portal Therapeutics, Inc. · Industry
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About This Trial
The purpose of this study is to collect information about the effects of EPP/XLP in adults and adolescents. This is an observational study in which participants will not receive any treatment. Study details include: * The study duration will be up to 6 months for each participant. * After Screening, participants will have a Baseline (Day 1) visit and return for visits every 4 weeks through 24 wee…
Trial Locations
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Eligibility Criteria
Inclusion Criteria: 1. Aged 12 years and older. 2. Confirmed diagnosis of EPP or XLP as follows: 1. Genetic confirmation of EPP (FECH mutation with reduced ferrochelatase activity) OR 2. Genetic confirmation of XLP (ALAS2 gain-of-function mutation) OR 3. Elevated free PPIX levels in RBCs …
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