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

Pilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology Disorders

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).

Study Overview

• Status: Recruiting
• Conditions: Dyskeratosis Congenita; Telomere Disease
• Intervention / Treatment: Drug: Quercetin

Detailed 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.

• Study Type: Interventional
• Enrollment (Estimated): 12
• Phase: Phase 1

Contacts and Locations

• Study Contact: Name: Sara Loveless; Phone Number: 513-803-7656; Email: sara.loveless@cchmc.org

Study Locations

• United States
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
      • Principal Investigator: Parinda Mehta, MD
      • Contact: Sara Loveless; Email: sara.loveless@cchmc.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: 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.

Drug: Quercetin; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Children's Hospital Medical Center, Cincinnati
• Investigators: Principal Investigator: Parinda Mehta, MD, Children's Hospital Medical Center, Cincinnati

Study record dates

Study Major Dates

• Study Start (Actual): May 29, 2026
• Primary Completion (Estimated): September 1, 2028
• Study Completion (Estimated): September 1, 2028

Study Registration Dates

• First Submitted: June 1, 2026
• First Submitted That Met QC Criteria: June 1, 2026
• First Posted (Actual): June 5, 2026

Study Record Updates

• Last Update Posted (Actual): June 5, 2026
• Last Update Submitted That Met QC Criteria: June 1, 2026
• Last Verified: June 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Genetic Diseases, Inborn; Hematologic Diseases; Skin Diseases; Congenital Abnormalities; Bone Marrow Diseases; Skin Diseases, Genetic; Genetic Diseases, X-Linked; Skin Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Dyskeratosis Congenita; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring; Pyrans; Benzopyrans; Flavonols; Flavonoids; Chromones; Quercetin
• Other Study ID Numbers: 2025-0657

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No