Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)
Pilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology Disorders
Children's Hospital Medical Center, Cincinnati
12 participants
May 29, 2026
INTERVENTIONAL
Conditions
Summary
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).
Eligibility
Inclusion Criteria6
- 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
Exclusion Criteria12
- 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)
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Interventions
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. Quercetin is administered as an oral medication, supplied in powder form. Quercetin will be stored at room temperature. The product will be dispensed for home administration. Each packet will be labeled in accordance with applicable regulatory requirements. Patients or parents will be instructed to mix it with a small amount of yogurt or other preferred food for ingestion.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT07628972