Alex's Lemonade Stand Foundation for Childhood Cancer

Identification of mutations in specific genes responsible for cancer susceptibility impacts decisions about treatment of the affected child as well as allowing increased surveillance and prevention approaches in at-risk family members. In addition, knowledge of inherited predisposition to pediatric malignancies has provided important insights into the mechanisms of cancer and potential therapeutic targets in both children and adults with cancer in the general population.

The first goal of cancer genetics research is to understand why children develop cancer and to identify if specific families or children have an even higher risk of developing cancer. This information impacts the child’s cancer care and determines who else in the family may need increased cancer surveillance to try and detect cancer at its earliest stage. Many cancer susceptibility genes also play a major role in cancer in the general population. Thus, the larger goal of cancer genetics research is to improve our understanding of cancer cells and to identify new targets for treatment.

Fatigue is now recognized as the most frequent symptom experienced by children and adolescents with cancer. As we increase our understanding of fatigue in children and adolescents with cancer, it is important to explore new measurements of this symptom. Carnitine is found in nearly all cells of the body and plays a critical role in energy production. Carnitine deficiencies can cause symptoms such as fatigue, muscle pain and weakness in individuals with cancer. The purpose of this study is to explore carnitine as a physiologic marker for fatigue in 60 children and adolescents with cancer.

Background

Neuroblastoma is an aggressive pediatric cancer that accounts for more than 15% of all pediatric cancer deaths. Currently we treat advanced disease with high dose chemotherapy, radiation therapy and surgery and despite these toxic therapies, cure rates remain less than 40% in children over one year of age. Our laboratory focuses on developing novel biologically specific therapies for neuroblastoma with the hope that these will be more effective and less toxic.