Pharmacogenetic Study in Patients Received Iron Chelating Agent

Seoul National University

Status: Completed

Conditions: Hemosiderosis

Study type: Observational

Funder types: Other

Identifiers

NCT01623895

SNUCH-R-0701

Details and patient eligibility

About

To investigate effect of genetic variations on the toxicities and find optimal target population, the investigators planned to analyze the genetic polymorphisms of UDP-glucuronosyltransferase.

Full description

Transfusion-associated iron overload induces systemic toxicity. Recently, deferasirox, a convenient long acting oral agent, has been introduced in clinical practice with promising efficacy. However, some patients experience drug-related toxicities and cannot tolerate it. To investigate effect of genetic variations on the toxicities and find optimal target population, we planned to analyze the genetic polymorphisms of UDP-glucuronosyltransferase 1A (UGT1A) subfamily, multi-drug resistance-associated protein 2 (MRP2) and breast cancer resistance protein (BCRP) among pediatric patients received deferasirox.

Enrollment: 100 estimated patients

Sex: All

Ages: Under 21 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Patients who received deferasirox because of transfusion associated iron overload (Transfusion associated iron overload was defined as ferritin ≥ 1,000 ng/mL in patients who needed over 8 units of RBC transfusions per a year).
2. Patients with written informed consents

Exclusion criteria

Patients or parents refusal