Quercetin for Dyskeratosis Congenita and Telomere Biology Disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a Phase 1, single-arm, open-label pilot study enrolling about 12 participants with Dyskeratosis Congenita or related telomere biology disorders. Participants will receive quercetin for 24 weeks to assess safety and tolerability. No randomization or control group is included. Eligible individuals are typically 2 years or older and meeting specific genetic or telomere length criteria, with several standard medical exclusions applied. The study is conducted at Cincinnati Children's Hospital Medical Center under a lead sponsor with no listed collaborator sites.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Diagnosis of DC/TBD deficiency as defined by at least one of the following:

   * 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
2. Patients ≥ 2.0 years of age\*

   * The first three enrolled patients must be ≥ 10.0 years of age
3. Able to take medication orally

Exclusion Criteria:

1. Renal failure requiring dialysis
2. Total bilirubin \>3 mg/dl and/or SGPT \>300 at time of enrollment, unless elevation thought to be related to DC/TBD
3. Patients who have received quercetin or any over-the-counter antioxidant supplementation within last 1 month
4. Patients currently taking androgen therapy
5. Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons
6. Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons
7. Patients who are pregnant or breastfeeding or are at risk of pregnancy and are unable to use acceptable methods of birth control during the length of the study
8. Patients with morphologic or cytogenetic evidence of myelodysplasia or leukemia.
9. Patients needing to start or actively receiving radiation therapy, chemotherapy or immunotherapy for treatment of SCC or other cancers.
10. Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care
11. Participating in another therapeutic study for DC/TBD
12. Patients who are in the early post-stem cell transplant period (i.e. first 6 months post-transplant)

Where it's running

• Cincinnati Children's Hospital Medical Center
  Cincinnati, Ohio, United States Recruiting

Study contacts

• Principal investigator: Parinda Mehta, MD — Children's Hospital Medical Center, Cincinnati
• Study coordinator: Monica Trapp, BSN, RN, TCTCN
• Email: monica.trapp@cchmc.org
• Phone: 5138038574

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Understanding congenital bone marrow failure and related disorders through a national network

  This project tests whether people with rare inherited bone marrow failure syndromes or related conditions really have the underlying genetic causes, by collecting data and samples across multiple centers.

  Recruiting at 4 sites Istituto Giannina Gaslini · Avellino and 3 other locations · NCT07877727

• Nucleoside treatment for telomere biology disorders

  This will try whether taking two oral nucleosides (deoxycytidine and deoxythymidine) for 24 weeks is safe and may change blood, bone marrow, or lung problems in people aged 1–70 with telomere biology disorders.

  Recruiting Phase 1 Boston Children's Hospital · Boston, Massachusetts · NCT06817590

• Reduced intensity bone marrow transplant for immune and bone marrow disorders

  This study is testing a gentler type of bone marrow transplant to see if it can help people with immune and bone marrow disorders recover better and live longer.

  Recruiting Phase 2 Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins · Baltimore, Maryland · NCT04232085

• Transplantation for inherited bone marrow failure disorders

  This study is testing a new way to do stem cell transplants for people with inherited bone marrow failure disorders to see if it can help them recover faster and reduce the risk of infections without needing extra medication.

  Recruiting Phase 2 Masonic Cancer Center, University of Minnesota · Minneapolis, Minnesota · NCT03579875

• Investigating genetic factors in childhood cancer

  This study is trying to find out if certain genes passed down in families can increase the risk of childhood cancer by looking at samples from kids who have had cancer and their relatives.

  Recruiting St. Jude Children's Research Hospital · Memphis, Tennessee · NCT03050268

• Investigation of genetics related to blood diseases

  This study is trying to understand the genetics behind blood diseases by collecting samples and health information from people with these conditions and their family members.

  Recruiting St. Jude Children's Research Hospital · Memphis, Tennessee · NCT02720679

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.