Dyskeratosis CongenitaPhase 1NCT07628972
Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)
A Phase 1 study testing Quercetin in people with Dyskeratosis Congenita and Telomere Disease, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Dyskeratosis Congenita, Telomere Disease
- What is being tested?
- Quercetin
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 1 siteUnited States
- Study dates
- 29 May 2026to Sep 2028
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Show all 12Show fewer
- 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)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Sara Loveless, sara.loveless@cchmc.org
Parinda Mehta, MD
About this study
Official title: 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).
Read the 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.
- Conditions
- Dyskeratosis Congenita, Telomere Disease
- Being tested
- Quercetin
- Medical subject headings
- Dyskeratosis Congenita
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuercetinDrug
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Quercetin |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 24 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2026
- Study start29 May 2026
- Primary completionSep 2028 (estimated)
- Study completionSep 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dyskeratosis CongenitaStudies of the same condition, open and under way.
- More trials run by Children's Hospital Medical Center, CincinnatiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Single arm, open-label pilot study; no randomization.
- Masking
- None (open label)
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Parinda Mehta, MD, Principal investigator, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07628972
- Sponsor's protocol ID
- 2025-0657
- Status last verified
- Sep 2026
- First submitted
- 1 Jun 2026
- Last updated
- 10 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology Disorders
- ClinicalTrials.gov ID
- NCT07628972
- Acronym / sponsor ID
- 2025-0657
- Conditions
- Dyskeratosis Congenita, Telomere Disease
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Children's Hospital Medical Center, CincinnatiUniversity, hospital or other
- Study start
- 29 May 2026 (actual)
- Primary completion
- Sep 2028 (estimated)
- Study completion
- Sep 2028 (estimated)
- First posted
- 5 Jun 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single arm, open-label pilot study; no randomization.
| Arm | Type | Receives |
|---|---|---|
| Quercetin | Experimental | Drug: QuercetinQuercetin 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. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Diagnosis of DC/TBD deficiency as defined by at least one of the following:
- Patients ≥ 2.0 years of age*
- Able to take medication orally
Key exclusion criteria (12 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| QuercetinQuercetin (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. | Drug | Quercetin |
Primary outcome
Number of Participants With Treatment-Related Adverse Events as Assessed by CTCAE v5.0
Time frame: 24 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 protocol
Time frame: 24 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Sep 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Parinda Mehta, MD principal investigator
Children's Hospital Medical Center, Cincinnati
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Quercetin in people with Dyskeratosis Congenita and Telomere Disease, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Monica Trapp, BSN, RN, TCTCN (5138038574, monica.trapp@cchmc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Treatment-Related Adverse Events as Assessed by CTCAE v5.0 (time frame: 24 weeks). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Sep 2026.