Clinical Trials in Italy / NCT07567131
Recruiting
Observational
Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
NCT07567131 · tracked via the Priya Life Science Italy tracker
Condition(s) studied
Erythropoietic Protoporphyria (EPP)X-Linked Porphyria (XLP)
Study summary
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.
Eligibility
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.
Primary outcome measure(s)
- Plasma Protoporphyrin IX (PPIX) Levels Over Time — Screening; Baseline; Weeks 4, 8, 12, 16, 20, 24
Plasma protoporphyrin IX (PPIX) concentrations measured at specified study visits. - Clinical History of Phototoxic Symptoms and Prodrome Timing — Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24
Medical history of EPP/XLP symptoms, including time to onset of prodromal sensations and occurrence of phototoxic reactions. - Skin Damage Manifestations — Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24
Skin damage manifestations associated with EPP/XLP, including swelling, erythema, and chronic skin changes. - Light Exposure and Phototoxic Reaction Data From Daily Diary — Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24
Daily recorded light exposure (including time spent outdoors), light dosimetry measurements, and occurrence of phototoxic reactions as captured in participant diaries. - Sunlight Exposure Required to Induce Prodromal Symptoms — Baseline and Weeks 4, 8, 12, 16, 20
Amount of sunlight exposure associated with onset of prodromal symptoms, along with corresponding plasma protoporphyrin IX (PPIX) levels.
Trial sites (19)
| Facility | City | Region | Status |
|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | Recruiting |
| Mount Sinai School of Medicine | New York | New York | Recruiting |
| Wake Forest University Baptist Health - Dept of Gastroenterology | Wake Forest | North Carolina | Recruiting |
| Temple University | Philadelphia | Pennsylvania | Not Yet Recruiting |
| University of Texas Health - Ertan Digestive Disease Center | Houston | Texas | Recruiting |
| UZ Leuven | Leuven | Belgium | Not Yet Recruiting |
| University of Alberta Hospital | Edmonton | Canada | Not Yet Recruiting |
| Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre | Bordeaux | France | Not Yet Recruiting |
| AP-HP Hopital Bichat - Claude Bernard | Paris | France | Not Yet Recruiting |
| Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano | Milan | Italy | Not Yet Recruiting |
| Azienda Ospedaliero-Universitaria di Modena | Modena | Italy | Not Yet Recruiting |
| Haukeland University Hospital | Bergen | Norway | Not Yet Recruiting |
| Hospital Universitario 12 de Octubre | Madrid | Spain | Recruiting |
| Consorcio Hospital General Universitario de Valencia | Valencia | Spain | Not Yet Recruiting |
| Gazi University Faculty of Medicine | Ankara | Turkey (Türkiye) | Not Yet Recruiting |
| University Hospital of Wales | Cardiff | United Kingdom | Recruiting |
| Ninewells Hospital | Dundee | United Kingdom | Recruiting |
| Guy's Hospital | London | United Kingdom | Recruiting |
| Salford Royal Hospital | Manchester | United Kingdom | Recruiting |
Other trials for the same condition
Study of Bitopertin in Participants With EPP or XLP (APOLLO)
Active, not recruiting
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT07567131 on ClinicalTrials.gov ↗ ← All trials in Italy