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

28. april 2026 oppdatert av: Portal Therapeutics, Inc.

Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)

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.

Studieoversikt

Status

Rekruttering

Forhold

Studietype

Observasjonsmessig

Registrering (Antatt)

50

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studiesteder

  • Belgia
      • Leuven, Belgia
        • Har ikke rekruttert ennå
        • UZ Leuven
        • Ta kontakt med:
  • Canada
  • Forente stater
    • Massachusetts
      • Boston, Massachusetts, Forente stater, 02114
        • Rekruttering
        • Massachusetts General Hospital
        • Ta kontakt med:
    • New York
      • New York, New York, Forente stater, 10029
        • Rekruttering
        • Mount Sinai School of Medicine
        • Ta kontakt med:
    • North Carolina
      • Wake Forest, North Carolina, Forente stater, 27587
        • Rekruttering
        • Wake Forest University Baptist Health - Dept of Gastroenterology
        • Ta kontakt med:
    • Pennsylvania
      • Philadelphia, Pennsylvania, Forente stater, 19121
        • Har ikke rekruttert ennå
        • Temple University
        • Ta kontakt med:
    • Texas
      • Houston, Texas, Forente stater, 77030
        • Rekruttering
        • University of Texas Health - Ertan Digestive Disease Center
        • Ta kontakt med:
  • Frankrike
      • Bordeaux, Frankrike
        • Har ikke rekruttert ennå
        • Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre
        • Ta kontakt med:
      • Paris, Frankrike
        • Har ikke rekruttert ennå
        • AP-HP Hopital Bichat - Claude Bernard
        • Ta kontakt med:
  • Italia
      • Milan, Italia
        • Har ikke rekruttert ennå
        • Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico Di Milano
        • Ta kontakt med:
      • Modena, Italia
        • Har ikke rekruttert ennå
        • Azienda Ospedaliero-Universitaria di Modena
        • Ta kontakt med:
  • Norge
      • Bergen, Norge
        • Har ikke rekruttert ennå
        • Haukeland University Hospital
        • Ta kontakt med:
  • Spania
      • Madrid, Spania
        • Rekruttering
        • Hospital Universitario 12 de Octubre
        • Ta kontakt med:
      • Valencia, Spania
        • Har ikke rekruttert ennå
        • Consorcio Hospital General Universitario de Valencia
        • Ta kontakt med:
  • Storbritannia
      • Cardiff, Storbritannia
        • Rekruttering
        • University Hospital of Wales
        • Ta kontakt med:
      • Dundee, Storbritannia
      • London, Storbritannia
        • Rekruttering
        • Guy's Hospital
        • Ta kontakt med:
      • Manchester, Storbritannia
  • Tyrkia (Türkiye)
      • Ankara, Tyrkia (Türkiye)
        • Har ikke rekruttert ennå
        • Gazi University Faculty of Medicine
        • Ta kontakt med:

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

  • Barn
  • Voksen
  • Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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.

Beskrivelse

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.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Plasma Protoporphyrin IX (PPIX) Levels Over Time
Tidsramme: Screening; Baseline; Weeks 4, 8, 12, 16, 20, 24
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
Tidsramme: 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.
Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24
Skin Damage Manifestations
Tidsramme: Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24
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
Tidsramme: 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.
Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24
Sunlight Exposure Required to Induce Prodromal Symptoms
Tidsramme: 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.
Baseline and Weeks 4, 8, 12, 16, 20

Sekundære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Liver Function Test Results
Tidsramme: Baseline and Weeks 4, 8, 12, 16, 20, 24
Blood levels of liver function parameters (e.g., alanine aminotransferase [ALT], aspartate aminotransferase [AST], bilirubin) and corresponding plasma protoporphyrin IX (PPIX) levels.
Baseline and Weeks 4, 8, 12, 16, 20, 24

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

Portal Therapeutics, Inc.

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Antatt)

30. april 2026

Primær fullføring (Antatt)

1. mars 2027

Studiet fullført (Antatt)

1. april 2027

Datoer for studieregistrering

Først innsendt

15. april 2026

Først innsendt som oppfylte QC-kriteriene

28. april 2026

Først lagt ut (Faktiske)

5. mai 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

5. mai 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

28. april 2026

Sist bekreftet

1. april 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • PORT-77-001

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

JA

IPD-planbeskrivelse

What may be shared:

De-identified individual participant data (no direct identifiers)

Who can access it:

Qualified researchers with a scientifically sound research proposal

Conditions for access:

Submission and approval of a research proposal Execution of a data sharing agreement (DSA) Compliance with privacy regulations (e.g., GDPR, HIPAA as applicable)

How it will be shared:

Through a secure data access process managed by the sponsor or designated data-sharing platform

Timing:

Typically after study completion and/or publication of primary results

Purpose:

To support further research on EPP and XLP while protecting participant confidentiality

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

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