Clinical Research Studies

If your child has been diagnosed with Acute lymphoblastic leukemia (ALL), you may qualify to participate in a clinical trial that will study the genetic basis of thiopurine (a drug commonly used in maintenance chemotherapy for patients with ALL). The main goal of this study is to evaluate the safety of thiopurines by comprehensively characterizing various mutant alleles in the NUDT15 gene in an ethnically diverse patient population. Thiopurine metabolites will be measured extensively and clinical toxicities monitored with a goal of understanding the role of NUDT15 in thiopurine metabolism and ultimately designing a genetics-based algorithm for dosing. This study will also study mechanisms of resistance to thiopurines and monitor the development of resistant clones during therapy. Gain of function somatic mutations have been recently identified in the NT5C2 gene; the presence of which confers resistance to thiopurines. These mutations are highly enriched at relapse. Prospective screening of patients will help determine if the presence of low level mutations in NT5C2 (and other relapse-related genes) is a predictor for recurrent disease and whether the mutant clone gains a survival advantage that ultimately leads to relapse.