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Quercetin for Dyskeratosis Congenita and Telomere Biology Disorders

This study is looking at a natural antioxidant called quercetin to see if it is safe for people with rare conditions called Dyskeratosis congenita (DC) or telomere biology disorders (TBD). Quercetin is a vitamin-like substance that is available as an over-the-counter supplement. The study will include about 12 participants who have been diagnosed with DC/TBD, which can be identified by specific genetic mutations or very short telomere lengths in their blood cells. Researchers will be watching for any side effects from quercetin and seeing if participants can continue taking it for 24 weeks. This study is currently unclear regarding its recruitment status.

Study design
This is a single-arm, open-label pilot study, meaning all 12 participants will receive quercetin, and both you and the study team will know what treatment you are getting.
What's involved
Participants will take quercetin for 24 weeks. The record does not specify the number of visits or other procedures.
Compensation
Not stated in the trial record.
Follow-up
The primary outcomes are measured at 24 weeks, which is the duration of treatment.

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NCT07628972

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

Recruiting
PHASE1Ages 2+InterventionalTreatment
Children's Hospital Medical Center, Cincinnati
~12 participants
Updated 2026-06-05 on ClinicalTrials.gov
What's tested:Quercetin

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of Participants With Treatment-Related Adverse Events as Assessed by CTCAE v5.0
Measured over 24 weeks
+1 more outcome measured

Conditions

Dyskeratosis Congenita
Telomere Disease

Explore related trials

Dyskeratosis CongenitaTelomere Biology DisordersACD GeneCTC1 GeneH/ACA Ribonucleoprotein Complex Subunit 2H/ACA Ribonucleoprotein Complex Subunit 3H/ACA Ribonucleoprotein Complex Subunit 4NAF1 GenePARN GeneRTEL1 GeneTelomerase RNA ComponentTelomere LengthTelomere Reverse TranscriptaseTINF2 GeneWRAP53 GeneZCCHC8 Gene

Where it's being run

1 sites across 1 states
Ohio1

Study leadership

  • Parinda Mehta, MD · PRINCIPAL_INVESTIGATOR · Children's Hospital Medical Center, Cincinnati

Who to contact

Sara Loveless
[email protected]
513-803-7656
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

What this trial measures

  • Number of Participants With Treatment-Related Adverse Events as Assessed by CTCAE v5.024 weeks

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

  • Number of Participants who Discontinue Quercetin Due to Lack of Feasibility as defined in the protocol24 weeks

    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.