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Идёт набор NCT07433621

Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency

Фаза I С лечением XIAP Deficiency

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
В протоколе указаны: Quercetin.
Кому может быть актуально
Состояния в реестре: XIAP Deficiency. Базовые параметры: от 2 лет · Мужчины.
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
Следующий шаг
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Официальное название

A Pilot Study to Evaluate Safety and Tolerability, Pharmacokinetics, and Preliminary Efficacy of Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency

Обзор

The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases.

Подробное описание

XIAP deficiency is a rare genetic immune disorder. XIAP usually suppresses inflammation and XIAP deficiency leads to increased inflammation. Patients may develop several inflammatory problems including hemophagocytic lymphohistiocytosis (HLH), a life-threatening syndrome of overwhelming inflammation characterized by fever, low blood counts (cytopenias), an enlarged spleen, liver problems, seizures, and other manifestations. Patients may develop milder symptoms such recurrent fevers or problems with low blood counts. Inflammatory bowel disease (IBD), arthritis or inflammation of the eyes (uveitis) can also occur, among other more rare complications. XIAP deficiency is often life-threatening and patients with severe disease require treatment with allogeneic hematopoietic cell transplantation (HCT), which is the only available curative treatment. Unfortunately, allogeneic HCT is associated with a high risk of mortality and significant side effects. Therefore, it's important to find other treatment options that are safe without major side effects.

The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases.

Вмешательства

  • Препарат Quercetin
    Quercetin will be administered orally at a weight adjusted dose for a maximum total daily dose of 4000mg/day, divided twice a day. If the patient is 70 kg or more, the dose will automatically be assigned at the maximum dose of 4000mg/day. Patients will be instructed to mix quercetin with a small amount of yogurt or other preferred food for ingestion.

Первичные конечные точки

  • Safety of quercetin in patients with XIAP deficiency [Срок оценки: 6 months]
  • Tolerability of quercetin in patients with XIAP deficiency [Срок оценки: 6 months]
Вторичные конечные точки (1)
  • Pharmacokinetics (PK) of quercetin in patients with XIAP deficiency [Срок оценки: Pre and post dose at baseline, 2 months, and 6 months]

Критерии участия

Критерии включения

  • Male patients
  • Diagnosis of XIAP deficiency
  • Patients ≥2 years of age
  • Serum IL-18 ≥600 pg/mL (approximately 25% above the lab-defined upper limit of normal of 477 pg/mL)
  • Able to take enteral medication

Критерии исключения

  • Renal failure requiring dialysis
  • Total bilirubin >3 mg/dl and/or SGPT >300 at time of enrollment
  • Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons
  • Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons
  • Patients who are at risk of pregnancy or fathering a child and are unable to use acceptable methods of birth control during the length of the study
  • Patients who have received quercetin or any over the counter anti-oxidant supplementation within last 1 month
  • Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care
  • Participating in another therapeutic study for XIAP deficiency

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение
Не применимо
Модель
Одна группа
Маскирование
Открытое
Основная цель
Лечение

Центры проведения

США · 1 центр
  • Cincinnati Children's Hospital Medical Center — Cincinnati

Идентификаторы

NCT: NCT07433621 · 2024-0601

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗