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PDE11A as a Novel Therapeutic Target for Inherited Form of Cushing Syndrome and Endocrine Tumors


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PDE11A as a Novel Therapeutic Target for Inherited Form of Cushing Syndrome and Endocrine Tumors

Description of Invention:

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:

  • 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 PDE11A as a potential novel drug target for the treatment of bilateral adrenal hyperplasia and other endocrine and non-endocrine tumors and malignancies.


  • 5 to 10 per 15 million 10 to 15 million new cases of Cushing Syndrome every year
  • 27,000 new cases of endocrine tumors every year
  • The technology involving PDE11A genes for the diagnosis and treatment of endocrine tumors including Cushing syndrome
  • The endocrine drug market is more than 40 billion US dollars

Development Status:

The technology is currently in the pre-clinical stage of development.



Dr. Constantine A. Stratakis (NICHD)


Patent Status:

DHHS Reference No. E-027-2006/0 --

U.S. Provisional Application No. 60/761,446 filed 24 Jan 2006 entitled 'PDE11A mutations in Adrenal Diseases'


Relevant Publication:

  1. 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. [PubMed abs]
  2. A Horvath et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res. 2006 Dec 15;66(24):11571-11575. [PubMed abs]

Licensing Status:


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 John D. Hewes, Ph.D. at 301-435-3121 or hewesj@mail.nih.gov for more information.






Cancer - Diagnostics

Cancer - Diagnostics - In Vitro

Cancer - Diagnostics - In Vitro - DNA Based

Cancer - Therapeutics



For Additional Information Please Contact:

Mojdeh Bahar J.D.

NIH Office of Technology Transfer

6011 Executive Blvd, Suite 325

Rockville, MD 20852-3804

Phone: (301)435-2950

Fax: (301) 402-0220


Web Ref: 1463


Last Updated On: 10/06

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Hi Mary,


I believe that PDE11A is the gene that is involved in the problems that Jackie's daughters are dealing with, I noticed Stratakis is involved.


I knew that drug companies had already discovered that producing drugs that inhibit phosphodiesterase (similar to the way the defect itself works) was profitable so I am glad to see that they are investigating ways to replace or induce or otherwise work around the missing enzyme.


This would be a good thing for those with the defect because it not only affects the adrenals in the formation of nodules but makes them susceptible to other endocrine tumors as well.


The part of the info that mentions "carriers of PDE11A sequence variants that are frequent in the population" is consistent with other information that I have come across. It makes you realize that alot of people are already or will be dealing with this, they are just not being diagnosed. If pharmaceutical companies decide to get involved, I suspect part of the reason might be because they believe there are enough people suffering with this to make it profitable.


Thanks for the update.



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I really appreciate you posting this information! and totally agree with Denney.


In my case, I'm positive that my Cushing's was inherited from my Grandfather and his mother as well. Looking at family photo's you can certainly see the effects of Cushings had on both of them. Both showed a very moon faced as well as the reddish tinged skin. My great grandmother looked very mannish at times too and both showed obvious mental effects from hormonal changes.


So this article really interested me with my family's history with Cushings. Thank you so much for posting it.



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Thanks for this article, Mary. Interesting stuff.

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