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Идёт набор NCT07628972

Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)

Фаза I С лечением Dyskeratosis Congenita Telomere Disease

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: Dyskeratosis Congenita, Telomere Disease. Базовые параметры: от 2 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
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

Pilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology Disorders

Обзор

The purpose of this study is to see if a vitamin-like substance called quercetin is safe for people who have a rare condition called Dyskeratosis congenita (DC) or telomere biology disorders (TBD).

Подробное описание

The purpose of this study is to see if a vitamin-like substance called quercetin is safe for people who have a rare condition called Dyskeratosis congenita (DC) or telomere biology disorders (TBD). This study is a single arm, open-label pilot study. There is no randomization. This study will enroll approximately 12 patients with DC/TBD who will be treated with quercetin for 24 weeks.

Вмешательства

  • Препарат Quercetin
    Quercetin (3, 30, 40, 5, 7-pentahydroxyflavone) is a naturally occurring antioxidant that belongs to a group of polyphenolic compounds known as flavonoids. Quercetin is routinely available as an over-the-counter product due to it being a nutritional supplement. However, for the purpose of the study, it will be purchased in the powder form from PCCA (supplied as 96% quercetin dihydrate) and stored and distributed by the investigational pharmacy at CCHMC using standard operational procedures. Que

Первичные конечные точки

  • Number of Participants With Treatment-Related Adverse Events as Assessed by CTCAE v5.0 [Срок оценки: 24 weeks]
  • Number of Participants who Discontinue Quercetin Due to Lack of Feasibility as defined in the protocol [Срок оценки: 24 weeks]

Критерии участия

Критерии включения

  • Diagnosis of DC/TBD deficiency as defined by at least one of the following:
  • Age adjusted mean-telomere length of <1 percentile in all tested peripheral blood cells such as granulocytes, lymphocytes, B-cells, naïve T-cells, memory T-cells, and NK cells
  • A pathogenic or likely pathogenic mutation in DKC1, TERC, TERT, NOP10, NHP2, TINF2, CTC1, PARN, RTEL1, ACD, NAF1, ZCCHC8, or WRAP53
  • Patients ≥ 2.0 years of age\*
  • The first three enrolled patients must be ≥ 10.0 years of age
  • Able to take medication orally

Критерии исключения

  • Renal failure requiring dialysis
  • Total bilirubin >3 mg/dl and/or SGPT >300 at time of enrollment, unless elevation thought to be related to DC/TBD
  • Patients who have received quercetin or any over-the-counter antioxidant supplementation within last 1 month
  • Patients currently taking androgen therapy
  • 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 pregnant or breastfeeding or are at risk of pregnancy and are unable to use acceptable methods of birth control during the length of the study
  • Patients with morphologic or cytogenetic evidence of myelodysplasia or leukemia.
  • Patients needing to start or actively receiving radiation therapy, chemotherapy or immunotherapy for treatment of SCC or other cancers.
  • Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care
  • Participating in another therapeutic study for DC/TBD
  • Patients who are in the early post-stem cell transplant period (i.e. first 6 months post-transplant)

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: NCT07628972 · 2025-0657

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗