Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP). Базовые параметры: от 12 лет · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- США, Бельгия, Канада, Франция, Италия +4
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)
Обзор
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.
Первичные конечные точки
- Plasma Protoporphyrin IX (PPIX) Levels Over Time [Срок оценки: Screening; Baseline; Weeks 4, 8, 12, 16, 20, 24]
- Clinical History of Phototoxic Symptoms and Prodrome Timing [Срок оценки: Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24]
- Skin Damage Manifestations [Срок оценки: Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24]
- Light Exposure and Phototoxic Reaction Data From Daily Diary [Срок оценки: Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24]
- Sunlight Exposure Required to Induce Prodromal Symptoms [Срок оценки: Baseline and Weeks 4, 8, 12, 16, 20]
Вторичные конечные точки (1)
- Liver Function Test Results [Срок оценки: Baseline and Weeks 4, 8, 12, 16, 20, 24]
Критерии участия
Критерии включения
- 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.
Критерии исключения
- 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.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
США · 5 центров
- Massachusetts General Hospital — Boston
- Mount Sinai School of Medicine — New York
- Wake Forest University Baptist Health - Dept of Gastroenterology — Wake Forest
- Temple University — Philadelphia
- University of Texas Health - Ertan Digestive Disease Center — Houston
Великобритания · 4 центра
- University Hospital of Wales — Cardiff
- Ninewells Hospital — Dundee
- Guy's Hospital — London
- Salford Royal Hospital — Manchester
Франция · 2 центра
- Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre — Bordeaux
- AP-HP Hopital Bichat - Claude Bernard — Paris
Италия · 2 центра
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano — Milan
- Azienda Ospedaliero-Universitaria di Modena — Modena
Испания · 2 центра
- Hospital Universitario 12 de Octubre — Madrid
- Consorcio Hospital General Universitario de Valencia — Valencia
Бельгия · 1 центр
- UZ Leuven — Leuven
Канада · 1 центр
- University of Alberta Hospital — Edmonton
Норвегия · 1 центр
- Haukeland University Hospital — Bergen
Turkey (Türkiye) · 1 центр
- Gazi University Faculty of Medicine — Ankara
Идентификаторы
NCT: NCT07567131 · PORT-77-001