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A Therapeutic Target for Inherited Form of Cushing Syndrome and Endocrine Tumors (PDE11A MUTATIONS IN ADRENAL DISEASE)

Background:
Cushing Syndrome, a disorder associated with excess production of cortisol affects up to 10 per 15 million people every year. Cushing Syndrome may be caused by several reasons such as cortisol-producing endocrine tumors and can be inherited in some instances. Surgery of the adrenal tumor is the most common method of treatment. New diagnostic and therapeutic approaches need to be developed for successful management of the disease.

Technology:
The clinical identification of a new disease termed "isolated micronodular adrenocortical disease" (iMAD), as well as the role of PDE11A gene in this disease. Additionally, the technology also identifies particular sequence variants of the PDE11A gene associated with abnormal or altered function of the gene, PDE11A as a potential novel drug target for the treatment of bilateral adrenal hyperplasia, and possibly other endocrine tumors and malignancies.

Applications and Modality:
  • Identification of PDE11A gene and sequence variants for the diagnosis of "isolated micronodular adrenocortical disease" (iMAD) a form of Cushing Syndrome and endocrine tumors, i.e., as diagnostic tool.
  • Identification of PDE 11A as a potential novel drug target for the treatment of bilateral adrenal hyperplasia and other endocrine and non-endocrine tumors and malignancies.
Development Status:
 Pre-clinical

Contact Information:
John D. Hewes, Ph.D., NCI Technology Transfer Center
Phone: 301-435-3121
E-mail: Hewesj@mail.nih.gov

Reference:  #479 JC

Updated 10/24/2007

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Page Last Updated: 12-17-2008