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

Qualifiers

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

Treatments tested in this trial

  • Quercetin

Treatment groups

12 Participants
are divided into 1 treatment group