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

NCT07567131 | Recruiting

• 1 other identifier: PORT-77-001
• Study Type: observational
• Target: 50
• Locations: 9 countries
• Sites: 19

Brief 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.

Conditions

Erythropoietic Protoporphyria (EPP); X-Linked Porphyria (XLP)

Keywords

EPP; XLP

Outcome Measures

Primary Outcomes (5)

• Plasma Protoporphyrin IX (PPIX) Levels Over Time

  Plasma protoporphyrin IX (PPIX) concentrations measured at specified study visits.

  Screening; Baseline; Weeks 4, 8, 12, 16, 20, 24

• Clinical History of Phototoxic Symptoms and Prodrome Timing

  Medical history of EPP/XLP symptoms, including time to onset of prodromal sensations and occurrence of phototoxic reactions.

  Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24

• Skin Damage Manifestations

  Skin damage manifestations associated with EPP/XLP, including swelling, erythema, and chronic skin changes.

  Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24

• Light Exposure and Phototoxic Reaction Data From Daily Diary

  Daily recorded light exposure (including time spent outdoors), light dosimetry measurements, and occurrence of phototoxic reactions as captured in participant diaries.

  Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24

• Sunlight Exposure Required to Induce Prodromal Symptoms

  Amount of sunlight exposure associated with onset of prodromal symptoms, along with corresponding plasma protoporphyrin IX (PPIX) levels.

  Baseline and Weeks 4, 8, 12, 16, 20

Secondary Outcomes (1)

• Liver Function Test Results

  Baseline and Weeks 4, 8, 12, 16, 20, 24

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study design and key inclusion criteria are focused on EPP/XLP and are inclusive of all potential participants, including those from underrepresented racial and ethnic populations. The sites and countries selected have diverse populations and the potential to enroll diverse participants.

You may qualify if:

• Aged 12 years and older.
• Confirmed diagnosis of EPP or XLP as follows:
• Genetic confirmation of EPP (FECH mutation with reduced ferrochelatase activity) OR
• Genetic confirmation of XLP (ALAS2 gain-of-function mutation) OR
• Elevated free PPIX levels in RBCs consistent with EPP/XLP, supported by clinical and/or family history.
• Currently has symptoms of EPP/XLP.
• History of consistent, non-painful prodrome within approximately 45 minutes of sunlight exposure and prior to phototoxic attacks, as self-reported by the participant.
• Willing and able to wear a light dosimetry device during the study.
• Willing and able to complete a daily diary of EPP/XLP symptoms.
• 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.
• Willing and able to provide informed consent and/or assent for the study.
• Study participants and LAR (as appropriate) are willing and able to comply with study visits and study procedures.

You may not qualify if:

• Diagnosis of another porphyria or another photodermatosis that may confound the characterization of EPP/XLP.
• 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.
• 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).
• Concurrent or anticipated participation in an interventional clinical trial during the study period.

Sponsors & Collaborators

• Portal Therapeutics, Inc.: lead

Study Sites (19)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

RECRUITING

Mount Sinai School of Medicine

New York, New York, 10029, United States

RECRUITING

Wake Forest University Baptist Health - Dept of Gastroenterology

Wake Forest, North Carolina, 27587, United States

RECRUITING

Temple University

Philadelphia, Pennsylvania, 19121, United States

NOT YET RECRUITING

University of Texas Health - Ertan Digestive Disease Center

Houston, Texas, 77030, United States

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

MeSH Terms

Conditions

Protoporphyria, Erythropoietic

Condition Hierarchy (Ancestors)

Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Porphyrias; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

GondolaBio Inquiries

CONTACT

650-249-2108; patientadvocacy@gondolabio.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2026
• First Posted: May 5, 2026
• Study Start: April 30, 2026
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): April 1, 2027
• Last Updated: May 5, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share

Locations

US (5); IT (2); TU (1); CA (1); FR (2); GB (4); ES (2); BE (1); NO (1)