Children's Hospital Medical Center, Cincinnati
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.
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 (uveit…
Inclusion Criteria: * 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 Exclusion Criteria: * 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 preg…
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.
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