NCT07433621

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

A Pilot Study to Evaluate Safety and Tolerability, Pharmacokinetics, and Preliminary Efficacy of Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency

• Status: Recruiting
• Phase: Phase 1
• Study type: Interventional
• Enrollment: 12 (estimated)
• Sponsor: Children's Hospital Medical Center, Cincinnati · Academic / Other
• Sex: Male
• Age: 2 Years
• Healthy volunteers: Not accepted

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.

Detailed description

XIAP deficiency is a rare genetic immune disorder. XIAP usually suppresses inflammation and XIAP deficiency leads to increased inflammation. Patients may develop several inflammatory problems including hemophagocytic lymphohistiocytosis (HLH), a life-threatening syndrome of overwhelming inflammation characterized by fever, low blood counts (cytopenias), an enlarged spleen, liver problems, seizures, and other manifestations. Patients may develop milder symptoms such recurrent fevers or problems with low blood counts. Inflammatory bowel disease (IBD), arthritis or inflammation of the eyes (uveitis) can also occur, among other more rare complications. XIAP deficiency is often life-threatening and patients with severe disease require treatment with allogeneic hematopoietic cell transplantation (HCT), which is the only available curative treatment. Unfortunately, allogeneic HCT is associated with a high risk of mortality and significant side effects. Therefore, it's important to find other treatment options that are safe without major side effects. 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

Interventions

Type	Name	Description
DRUG	Quercetin	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.

Timeline

• Start date: 2026-02-26
• Primary completion: 2028-11-01
• Completion: 2029-06-01
• First posted: 2026-02-25
• Last updated: 2026-03-27

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study