Pilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology Disorders
试验速览
- 阶段
- 1 期
- 状态
- 招募中
- 入组人数
- 12
- 试验地点
- 1
研究概览
简要总结
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).
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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)
研究组 & 干预措施
Quercetin
Quercetin dose (based on patient weight and as a percentage of adult dose - as noted in Table 2) will be given orally on a twice a day schedule starting with weight adjusted maximum total daily dose of 4000 mg/day (and administered in divided doses bid). For patients who weigh 70 kg or more, the starting dose will be automatically assigned at the maximum dose of 4000 mg/day.
干预措施: Quercetin (Drug)