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

Recruitingn/aAges 12 Years - anyAllPortal Therapeutics, Inc.
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In plain words

What the trial is, and whether it could suit you

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 weeks. * Assessments to evaluate EPP/XLP will include clinical laboratory tests, physical exams, vital signs measurement, blood draws for PPIX concentration, reporting of EPP/XLP-related symptoms (including completion of a daily diary), light dosimetry.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
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 consistent with EPP/XLP, supported by clinical and/or family history. 3. Currently has symptoms of EPP/XLP. 4. History of consistent, non-painful prodrome within approximately 45 minutes of sunlight exposure and prior to phototoxic attacks, as self-reported by the participant. 5. Willing and able to wear a light dosimetry device during the study. 6. Willing and able to complete a daily diary of EPP/XLP symptoms. 7. Willing and able to keep skin sites chosen for provocative sunlight exposure testing covered by opaque material when outside or exposed to potentially triggering light beginning 2 days prior to testing. 8. Willing and able to provide informed consent and/or assent for the study. 9. Study participants and LAR (as appropriate) are willing and able to comply with study visits and study procedures. Exclusion Criteria: 1. Diagnosis of another porphyria or another photodermatosis that may confound the characterization of EPP/XLP. 2. Has a clinically significant disease or condition that, at the discretion of the Investigator or Sponsor, would interfere with the evaluation of EPP/XLP or study participation, or would make study participation not in the best interest of the participant. 3. Is taking, or has taken within 60 days of Day 1, any medication, vitamin, or supplement that alters sensitivity to light exposure (eg, afamelanotide, melanotan, beta carotene, dersimelagon, or bitopertin). 4. Concurrent or anticipated participation in an interventional clinical trial during the study period.
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What it tests

  • Not listed
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Where

19 sites
Massachusetts General Hospital
Boston, United States
Mount Sinai School of Medicine
New York, United States
Wake Forest University Baptist Health - Dept of Gastroenterology
Wake Forest, United States
Temple University
Philadelphia, United States
University of Texas Health - Ertan Digestive Disease Center
Houston, United States
UZ Leuven
Leuven, Belgium
University of Alberta Hospital
Edmonton, Canada
Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre
Bordeaux, France

โ€ฆand 11 more on ClinicalTrials.gov.

๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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