Clinical identification of a new disease termed "isolated micronodular adrenocortical disease" (iMAD), as well as the role of PDE11A gene in this disease

Cushing Syndrome, a disorder associated with excess production of a steroid hormone, 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. This technology describes 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: (1) 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; (2) Identification of PDE11A as a potential novel drug target for the treatment of bilateral adrenal hyperplasia and other endocrine and non- endocrine tumors and malignancies. Market: (1) 5 to 10 per 15 million 10 to 15 million new cases of Cushing Syndrome every year; (2) 27,000 new cases of endocrine tumors every year; (3) The technology involving PDE11A genes for the diagnosis and treatment of endocrine tumors including Cushing syndrome; (4) The endocrine drug market is more than 40 billion US dollars Development Status: The technology is currently in the pre- clinical stage of development. Publication: A Horvath et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006 Jul;38(7):794-800. Epub 2006 Jun 11, doi:10.1038/ng1809.

Preclinical

U.S. Provisional Application No. 60/761,446 filed 24 Jan 2006 entitled "PDE11A Mutations in Adrenal Diseases" (HHS Reference No. E-027-2006/0-US-01) Inventor: Dr. Constantine A. Stratakis (NICHD)

Licensees sought: Available for exclusive and non-exclusive license. Collaborative Research Opportunity: The NICHD Heritable Disorders Branch is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize testing for PDE11A genetic or functional defects in endocrine disease, and endocrine and other tumors or cancers. Please contact Betty Tong, Ph.D. at 301-594-4263 or tongb@mail.nih.gov for more information.