Quercetin for Dyskeratosis Congenita

This trial explores the safety of quercetin, a vitamin-like substance, for individuals with Dyskeratosis congenita (DC) or telomere biology disorders (TBD). These rare conditions can affect the skin, nails, and blood. Participants will take quercetin orally twice a day. The trial seeks individuals diagnosed with DC or TBD who can take medication by mouth. As a Phase 1 trial, the research focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive this new treatment.

You may need to stop taking certain medications. If you are on androgen therapy, digoxin, or fluoroquinolone and cannot stop for medical reasons, you may not be eligible to participate.

Research has shown that quercetin is generally safe for people. One study found that individuals with conditions similar to Dyskeratosis congenita (DC) tolerated quercetin well at all tested doses. Other studies in adults suggest that taking up to 1,000 mg of quercetin daily for 12 weeks is likely safe. No evidence indicates that quercetin is seriously toxic or causes cancer. While more research is needed for people with DC, these early findings offer some reassurance about quercetin's safety.¹²³⁴⁵

Unlike the standard treatments for Dyskeratosis Congenita, which often focus on managing symptoms with therapies like androgens, steroids, or bone marrow transplantation, Quercetin offers a novel approach. Quercetin is a plant-derived compound known for its antioxidant properties, which may target the cellular stress and damage linked to this genetic disorder. Researchers are excited about its potential to provide a more direct and less invasive treatment option by addressing underlying cellular issues rather than just alleviating symptoms. This could mean a significant improvement in quality of life for patients with fewer side effects compared to more aggressive treatments.

Studies have shown that quercetin, a natural compound in many fruits and vegetables, may help with issues related to telomeres. Telomeres are parts of DNA that influence aging and cell health. Research suggests that quercetin can lengthen telomeres, with one study noting a significant increase after supplementation. Quercetin has also been studied for its ability to reduce senescent cells, which are old cells that have stopped dividing and can cause harm. This suggests quercetin might improve cell health. Although limited studies exist on quercetin specifically for Dyskeratosis congenita, a rare condition affecting telomeres, these findings offer a hopeful starting point. Participants in this trial will receive quercetin to evaluate its effects on Dyskeratosis congenita.¹²³⁶⁷