PDE11A Mutations in Adrenal Disease

Cushing's syndrome is a rare and debilitating endocrine disorder caused by prolonged exposure to elevated levels of cortisol. 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 treatment.

The technology relates to a use of nucleic acid encoding a variant of PDE11A gene to aid in the diagnosis of Cushing Syndrome in children.

Potential Commercial Applications: Competitive Advantages:
  • Drug target for treatment of bilateral adrenal hyperplasia
  • Diagnosis of adrenal disease to aid in successful management of cortisol-producing endocrine tumors
  • Provides a method to develop a non-invasive treatment of adrenal tumors

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


Constantine Stratakis (NICHD)  ➽ more inventions...

Intellectual Property:
U.S. Pat: 7,847,078 issued 2010-12-07
PCT Application No. PCT/US2007/060746
US Application No. 60/761,446

Horvath A, et al. PMID 16767104
Horvath A, et al. PMID 17178847
Hannah-Shmouni F, et al. PMID 27625633

Collaboration Opportunity:

Researchers at the NICHD seek licensing and/or co-development research collaborations for development of agents that modulate PDE11A. Please contact John D. Hewes, Ph.D. at john.hewes@nih.gov for more information.

Licensing Contact:
Martha Lubet, Ph.D.
Email: lubetm@mail.nih.gov
Phone: 240-276-5508

OTT Reference No: E-027-2006/0
Updated: Dec 8, 2017