Study of the Natural History of Neurofibromatosis Type 1
Name of the Trial
Study of Natural History and Longitudinal Assessment of Pediatric and Adult Patients with Neurofibromatosis Type 1 and Their Healthy Siblings (NCI-08-C-0079). See the protocol summary.
Dr. Brigitte Widemann, NCI Center for Cancer Research
Why This Trial Is Important
Neurofibromatosis type 1 (NF1) is a genetic condition caused by mutations in the NF1 gene. It is characterized by multiple skin changes, including brown spots on the skin, freckling in the groin and underarms, and the formation of benign tumors called neurofibromas. People with NF1 are prone to develop a number of tumors, including benign plexiform neurofibromas that grow along peripheral nerves and cancerous tumors called malignant peripheral nerve sheath tumors. In addition, NF1 can cause changes in every organ system, such as the bones, heart, and endocrine system.
NF1 generally becomes evident in childhood, but the development of NF1 symptoms varies greatly from person to person, and not much is known about how it progresses as patients grow older or about the biological changes that coincide with the physical manifestation of symptoms.
To expand our understanding of NF1, researchers are conducting a long-term study of children and adults with the condition and their healthy siblings. They hope that by studying patients and siblings over time they can learn how the disease progresses and how to better detect and treat its symptoms.
"This study will allow us to follow patients over long periods of time to gain a much better understanding of the natural history of NF1, develop better endpoints for future clinical trials, and determine whether treatments for some manifestations of the disease affect the development of other manifestations," Dr. Widemann said.
Patients in this study will undergo detailed clinical evaluations and genotyping to help identify the genetic mutation that causes NF1 in individual patients. About half of NF1 patients inherit a mutant NF1 gene from their parents, whereas the rest develop the disorder from spontaneous mutations in the NF1 gene.
"The development of symptoms can be highly variable among family members with NF1," added Dr. Widemann. "Unlike previous NF1 studies we have conducted, in this study we will monitor both the tumor and non-tumor manifestations of the disease to gain a better understanding of how these symptoms progress and relate to each other."