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