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

Recruiting now · Phase 1

Conditions studied: Dyskeratosis Congenita, Telomere Disease

In brief

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).

Key facts

Study ID

NCT07628972

Run by

Children's Hospital Medical Center, Cincinnati

People needed

12

Starts

2026-05-29

Expected to finish

2028-09-01

Last updated by the study team

2026-06-05

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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)

Where it is running

• Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (enrolling)

Full record on ClinicalTrials.gov

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