Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency

NCT07433621 | Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: 2024-0601
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases.

Conditions

XIAP Deficiency

Outcome Measures

Primary Outcomes (2)

• Safety of quercetin in patients with XIAP deficiency

  Assessment of AEs

  6 months

• Tolerability of quercetin in patients with XIAP deficiency

  Number of subjects who discontinue study drug due to intolerance

  6 months

Secondary Outcomes (1)

• Pharmacokinetics (PK) of quercetin in patients with XIAP deficiency

  Pre and post dose at baseline, 2 months, and 6 months

Study Arms (1)

Quercetin

EXPERIMENTAL

All subjects will receive a weight adjusted dose of quercetin for a maximum total daily dose of 4000mg/day, divided twice a day.

Drug: Quercetin

Interventions

Quercetin DRUG

Quercetin will be administered orally at a weight adjusted dose for a maximum total daily dose of 4000mg/day, divided twice a day. If the patient is 70 kg or more, the dose will automatically be assigned at the maximum dose of 4000mg/day. Patients will be instructed to mix quercetin with a small amount of yogurt or other preferred food for ingestion.

Quercetin

Eligibility Criteria

• Age: 2 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Male patients
• Diagnosis of XIAP deficiency
• Patients ≥2 years of age
• Serum IL-18 ≥600 pg/mL (approximately 25% above the lab-defined upper limit of normal of 477 pg/mL)
• Able to take enteral medication

You may not qualify if:

• Renal failure requiring dialysis
• Total bilirubin \>3 mg/dl and/or SGPT \>300 at time of enrollment
• Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons
• Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons
• Patients who are at risk of pregnancy or fathering a child and are unable to use acceptable methods of birth control during the length of the study
• Patients who have received quercetin or any over the counter anti-oxidant supplementation within last 1 month
• Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care
• Participating in another therapeutic study for XIAP deficiency

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

MeSH Terms

Conditions

Lymphoproliferative Syndrome, X-Linked, 2

Interventions

Quercetin

Intervention Hierarchy (Ancestors)

Flavonols; Flavonoids; Chromones; Benzopyrans; Pyrans; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring

Study Officials

• Rebecca Marsh, MD

  Children's Hospital Medical Center, Cincinnati

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kelly McIntosh

CONTACT

513-803-0460; Kelly.mcintosh@cchmc.org

Richard Cooper

CONTACT

513-803-7450; richard.cooper@cchmc.org

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 20, 2026
• First Posted: February 25, 2026
• Study Start: February 26, 2026
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): June 1, 2029
• Last Updated: March 27, 2026

Record last verified: 2026-03

Locations

US (1)