[Federal Register Volume 81, Number 30 (Tuesday, February 16, 2016)]
[Notices]
[Pages 7820-7821]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2016-02970]


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DEPARTMENT OF HEALTH AND HUMAN SERVICES

National Institutes of Health


Government-Owned Inventions; Availability for Licensing

AGENCY: National Institutes of Health, HHS.

ACTION: Notice.

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SUMMARY: The invention listed below is owned by an agency of the U.S. 
Government and is available for licensing and/or co-development in the 
U.S. in accordance with 35 U.S.C. 209 and 37 CFR part 404 to achieve 
expeditious commercialization of results of federally-funded research 
and development. Foreign patent applications are filed on selected 
inventions to extend market coverage for companies and may also be 
available for licensing and/or co-development.

ADDRESSES: Invention Development and Marketing Unit, Technology 
Transfer Center, National Cancer Institute, 9609 Medical Center Drive, 
Mail Stop 9702, Rockville, MD 20850-9702.

FOR FURTHER INFORMATION CONTACT: Information on licensing and co-
development research collaborations, and copies of the U.S. patent 
applications listed below may be obtained by contacting: Attn. 
Invention Development and Marketing Unit, Technology Transfer Center, 
National Cancer Institute, 9609 Medical Center Drive, Mail Stop 9702, 
Rockville, MD, 20850-9702, Tel. 240-276-5515 or email 
[email protected]. A signed Confidential Disclosure 
Agreement may be required to receive copies of the patent applications.

SUPPLEMENTARY INFORMATION: Technology description follows.

Title of Invention

    AAV-based Vectors for the Therapeutic Management of Menkes Disease 
and Related Copper Transport Disorders

Description of Technology

    The only currently available treatment for Menkes disease, 
subcutaneous copper histidinate injections, is successful only in 
patients with ATP7A gene mutations that do not completely corrupt ATP7A 
copper transport function (estimated 20-25% of affected patients) and 
when started at a very early age (first month of life). The combination 
of viral gene therapy with copper injections provides working copies of 
the ATP7A copper transporter into the brain, together with a source of 
the substrate (copper) needed for proper brain growth and clinical 
neurodevelopment.
    Codon-optimized nucleic acids encoding a reduced-size ATP7A protein 
and compositions of AAV vectors were discovered by NICHD researchers 
along with methods of administering this therapy. Human P-type ATPase 
copper-transporting ATPase 1 (ATP7A) transports copper from enterocytes 
(where it is taken up from dietary copper) into the blood. ATP7A also 
mediates passage of copper across the blood-cerebrospinal fluid (CSF) 
barrier and the blood-brain barrier. In Menkes disease and occipital 
horn syndrome (OHS), copper accumulates in intestinal cells and less 
copper is absorbed into the blood, resulting in restricted copper 
supply to other tissues, particularly the brain. Death in infancy or 
early childhood is a common consequence. Therapeutic delivery of the 
copper transport protein via an AAV vector, combined with subcutaneous 
copper histidinate treatment will relieve the copper deficiency to the 
brain and permit normal neurological development and function.

Potential Commercial Applications

     Treatment of Menkes Disease, Occipital Horn Syndrome, and 
of ATP7A-related distal motor neuropathy

Value Proposition

     Provides working copies of the ATP7A copper transporter 
into the brain, together with a source of the substrate (copper) needed 
for proper brain growth and clinical neurodevelopment.

Development Stage

    Pre-clinical (in vivo validation)

Inventor(s)

    Stephen G. Kaler, M.D. (NICHD)

Intellectual Property

    HHS Reference No. E-062-2015/0
    U.S. Provisional Application No. 62/244,594 filed 21 October 2015

[[Page 7821]]

    Licensing Opportunity: Researchers at the NICHD seek licensing and/
or co-development research collaborations for the therapeutic 
management of Menkes Disease and related copper transport disorders.

Contact Information

    Requests for copies of the patent application or inquiries about 
licensing, research collaborations, and co-development opportunities 
should be sent to John D. Hewes, Ph.D., email: [email protected].

    Dated: February 8, 2016.
John D. Hewes,
Technology Transfer Specialist, Technology Transfer Center, National 
Cancer Institute.
[FR Doc. 2016-02970 Filed 2-12-16; 8:45 am]
 BILLING CODE 4140-01-P