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

Cincinnati Children's Hospital Medical Center

Status and phase: Enrolling; Phase 1

Conditions: Telomere Disease; Dyskeratosis Congenita

Treatments: Drug: Quercetin

Study type: Interventional

Funder types: Other

Identifiers

NCT07628972

2025-0657

Details and patient eligibility

About

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).

Full description

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.

Enrollment: 12 estimated patients

Sex: All

Ages: 2+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. 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

2. Patients ≥ 2.0 years of age*

   • The first three enrolled patients must be ≥ 10.0 years of age

3. Able to take medication orally

Exclusion criteria

1. Renal failure requiring dialysis
2. Total bilirubin >3 mg/dl and/or SGPT >300 at time of enrollment, unless elevation thought to be related to DC/TBD
3. Patients who have received quercetin or any over-the-counter antioxidant supplementation within last 1 month
4. Patients currently taking androgen therapy
5. Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons
6. Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons
7. 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
8. Patients with morphologic or cytogenetic evidence of myelodysplasia or leukemia.
9. Patients needing to start or actively receiving radiation therapy, chemotherapy or immunotherapy for treatment of SCC or other cancers.
10. Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care
11. Participating in another therapeutic study for DC/TBD
12. Patients who are in the early post-stem cell transplant period (i.e. first 6 months post-transplant)

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

12 participants in 1 patient group

Quercetin

Experimental group

Description:

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.

Treatment:

Drug: Quercetin