Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)
Trial statusRecruiting
Trial phasePhase 1
Trial typeInterventional
Biological sexAll
Age2+
SponsorChildren's Hospital Medical Center, Cincinnati
About this trial
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).
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
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
Trial design
Design model
Single group
Treatments tested in this trial
Quercetin
DrugQuercetin (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.
Treatment groups
12 Participants
are divided into 1 treatment groupGroup A: QuercetinExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
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.
Time frame
24 weeks2
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.
Time frame
24 weeksSponsors and contacts
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Source ClinicalTrials.gov