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Study of the Natural History of Neurofibromatosis Type 1
Untitled Document
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.
Principal Investigator
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Dr. Brigitte Widemann
Principal Investigator |
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."
For More Information
See the list of entry
criteria and trial
contact information or call the NCI Clinical Trials Referral Office at 1-888-NCI-1937.
The call is toll free and confidential.
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