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

NCT07628972 | Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: 2025-0657
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 1

Brief 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).

Conditions

Dyskeratosis Congenita; Telomere Disease

Outcome Measures

Primary Outcomes (2)

• Number of Participants With Treatment-Related Adverse Events as Assessed by CTCAE v5.0

  Participants will be evaluated by monitoring treatment-emergent adverse events, physical exam, and labs throughout the study treatment period.

  24 weeks

• Number of Participants who Discontinue Quercetin Due to Lack of Feasibility as defined in the protocol

  Participants will keep a log of medication administration and bring the same to their follow-up study visits, to demonstrate the feasibility of administering the supplement to patients consistently for a prolonged period of time (24 weeks). If ≥3 out of the first 6 patients miss ≥2 weeks of continuous therapy during the 24 weeks of treatment, without medical reason for the same, study will pause and findings will be discussed with the medical monitor.

  24 weeks

Study Arms (1)

Quercetin

EXPERIMENTAL

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.

Drug: Quercetin

Interventions

Quercetin DRUG

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.

Quercetin

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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)

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

MeSH Terms

Conditions

Dyskeratosis Congenita

Interventions

Quercetin

Condition Hierarchy (Ancestors)

Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Flavonols; Flavonoids; Chromones; Benzopyrans; Pyrans; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring

Study Officials

• Parinda Mehta, MD

  Children's Hospital Medical Center, Cincinnati

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sara Loveless

CONTACT

513-803-7656; sara.loveless@cchmc.org

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Single arm, open-label pilot study; no randomization.

Study Record Dates

• First Submitted: June 1, 2026
• First Posted: June 5, 2026
• Study Start: May 29, 2026
• Primary Completion (Estimated): September 1, 2028
• Study Completion (Estimated): September 1, 2028
• Last Updated: June 5, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)