Pilot Study to Evaluate Safety of Oral Quercetin in Patients With Dyskeratosis Congenita and Telomere Biology Disorders

What this Trial Is About

Researchers are evaluating the safety of a vitamin-like substance called quercetin in people with a rare condition known as Dyskeratosis congenita DC or telomere biology disorders TBD. This pilot study is open-label and single-arm, involving about 12 patients with DC or TBD. The study aims to understand how quercetin affects these patients over a 24-week period. Participants will receive quercetin orally twice daily, with doses adjusted based on their weight. The maximum total daily dose is 4000 mg, given in divided doses. For patients weighing 70 kg or more, the starting dose is set at the maximum level. The quercetin is supplied as a powder to be mixed with food like yogurt for home administration. During the study, participants will be monitored for any treatment-related side effects and for reasons that might cause them to stop taking quercetin. Assessments will include safety evaluations over the 24 weeks of treatment. The study is led by Childrens Hospital Medical Center, Cincinnati, and aims to carefully track how participants respond to quercetin throughout the trial period.

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