Pharmacogenetic Study in Patients Received Iron Chelating Agent

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.

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Key information

Conditions

Hemosiderosis Iron Metabolism Disorders Iron Overload Metabolic Diseases Nutritional and Metabolic Diseases

Age range

Up to 21 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Seoul National University Hospital

Seoul, Chongno-gu, South Korea

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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).
Patients with written informed consents

Exclusion criteria

Patients or parents refusal

Treatment and study plan

Primary outcomes

Genetic polymorphism associated with side effects of deferasirox

Time frame: up to 1 year
Genetic polymorphism associated with side effects of deferasirox
- Side effects:
Increased AST or ALT > 5 x ULN or increased bilirubin > 3 x ULN which was thought to be caused by deferasirox Serum creatinine level increase > 50% above the baseline value.
- Biospecimen Retention: Samples With DNA
- Candidate genes exhibit polymorphisms and encodes proteins that are involved in the pharmacokinetics and pharmacodynamics of deferasirox.
Candidate genes : MRP2, BCRP, UGT1A subfamily

Sponsors and collaborators

Lead sponsor

Seoul National University Hospital

Other

Registry information

Important dates

Study start: 2007
Primary completion: 2013
Study completion: 2013
First posted: Jun 20, 2012
Registry last updated: Jul 14, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed