18582 Federal Register / Vol. 74, No. 77 / Thursday, April 23, 2009 / Notices 

35 U.S.C. 207 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. 

ADDRESSES: Licensing information and 

copies of the U.S. patent applications 

listed below may be obtained by writing 

to the indicated licensing contact at the 

Office of Technology Transfer, National 

Institutes of Health, 6011 Executive 

Boulevard, Suite 325, Rockville, 

Maryland 20852–3804; telephone: 301/ 

496–7057; fax: 301/402–0220. A signed 

Confidential Disclosure Agreement will 

be required to receive copies of the 

patent applications. 

Identification of Subjects Likely To 

Benefit From Copper Treatment 

Description of Technology: Menkes 

disease is an infantile onset X-linked 

recessive neurodegenerative disorder 

caused by deficiency or dysfunction of 

a copper-transporting ATPase, ATP7A. 

The clinical and pathologic features of 

this condition reflect decreased 

activities of enzymes that require copper 

as a cofactor, including dopamine-bhydrolase, cytochrome c oxidase and 

lysyl oxidase. Recent studies indicate 

that ATP7A normally responds to Nmethyl-D-aspartate receptor activation 

in the brain, and an impaired response 

probably contributes to the 

neuropathology of Menkes disease. 

Affected infants appear healthy at birth 

and develop normally for 6 to 8 weeks. 

Subsequently, hypotonia, seizures and 

failure to thrive occur and death by 3 

years of age is typical. Occipital horn 

syndrome (OHS) is also caused by 

mutations in the copper transporting 

ATPase ATP7A, although its symptoms 

are milder than Menkes syndrome, 

including occipital horns and lax skin 

and joints. 

Treatment with daily copper 

injections may improve the outcome in 

Menkes disease if commenced within 

days after birth; however, newborn 

screening for this disorder is not 

available and early detection is difficult 

because clinical abnormalities in 

affected newborns are absent or subtle. 

Moreover, the usual biochemical 

markers (low serum copper and 

ceruloplasmin) are unreliable predictors 

in the neonatal period, since levels in 

healthy newborns are low and overlap 

with those in infants with Menkes 

disease. Although molecular diagnosis 

is available, its use is complicated by 

the diversity of mutation types and the 

large size of ATP7A (about 140kb). 

Thus, there is a need for improved 

methods for early detection of infants 

with Menkes disease or OHS in order to 

improve outcomes. 

This technology relates to methods of 

identifying individuals who may benefit 

from treatment with copper, particularly 

those having Menkes disease or 

Occipital Horn Syndrome. 

Inventor: Stephen G. Kaler (NICHD). 

Publication: SG Kaler, CS Holmes, DS 

Goldstein, JR Tang, SC Godwin, A 

Donsante, CJ Liew, S Sato, N Patronas. 

Neonatal diagnosis and treatment of 

Menkes disease. N Engl J Med. 2008 Feb 

7;358(6):605–614. 

Patent Status: PCT Application No. 

PCT/US2008/078966 filed 06 Oct 2008 

(HHS Reference No. E–186–2008/0– 

PCT–01). 

Licensing Status: Available for 

licensing. 

Licensing Contact: Fatima Sayyid, 

M.H.P.M.; 301–435–4521; 

Fatima.Sayyid@hhs.nih.gov. 

Collaborative Research Opportunity: 

The National Institute of Child Health 

and Human Development, Division of 

Intramural Research, Molecular 

Medicine Program, Unit on Pediatric 

Genetics, is seeking statements of 

capability or interest from parties 

interested in collaborative research to 

further develop, evaluate, or 

commercialize population-based 

newborn screening for Menkes disease 

and related disorders of copper 

transport in order to identify subjects 

likely to benefit from copper injections 

and other treatments. Please contact 

Alan Hubbs, PhD at 301–594–4263 or 

hubbsa@mail.nih.gov for more 

information. 

Polyclonal Antibody Against Bloom’s 

Syndrome Protein (BLM) for Research 

and Diagnostic Use 

Description of Technology: 

Investigators at the National Institutes of 

Health have generated a polyclonal 

antibody against Bloom’s syndrome 

protein (BLM). The BLM protein is a 

DNA helicase enzyme and a key 

component of the DNA damage 

response signaling pathway. Several 

protein kinases including ATM, DNA– 

PK, and ATR can mediate the 

phosphorylation of BLM. The 

polyclonal antibody is generated by 

using a phosphorylated peptide 

belonging to the N-terminus of BLM. 

The antibody shows a rapid 

phosphorylation of BLM on threonine 

99 (T99p-BLM) following DNA damage 

by anti-cancer agents and could serve as 

a therapeutic marker of drug action on 

DNA. The antibody is also useful for 

microscopic and biochemical analysis of 

DNA damage signaling. 

Applications: 

• A therapeutic marker of drug action 

on DNA 

• A diagnostic indicator of inherent 

genomic instability 

Inventors: Yves Pommier and V. 

Ashutosh Rao (NCI) 

Patent Status: HHS Reference No. E– 

053–2006/0—Research Tool. Patent 

protection is not being sought for this 

technology. 

Licensing Status: Threonine 99 

specific polyclonal antibody against the 

BLM protein is available for licensing. 

Licensing Contact: Betty Tong, PhD; 

301–594–6565; tongb@mail.nih.gov. 

Dated: April 16, 2009. 

Richard U. Rodriguez, 

Director, Division of Technology Development 

and Transfer, Office of Technology Transfer, 

National Institutes of Health. 

[FR Doc. E9–9345 Filed 4–22–09; 8:45 am] 

BILLING CODE 4140–01–P 

DEPARTMENT OF HEALTH AND 

HUMAN SERVICES 

National Institutes of Health 

National Institute on Deafness and 

Other Communication Disorders; 

Amended Notice of Meeting 

Notice is hereby given of a change in 

the meeting of the National Institute on 

Deafness and Other Communication 

Disorders Special Emphasis Panel, April 

28, 2009, 1 p.m. to April 28, 2009, 4 

p.m., National Institutes of Health, 

Bethesda, MD which was published in 

the Federal Register on April 6, 2009, 

7415501. 

The meeting will be held April 29, 

2009. The meeting is closed to the 

public. 

Dated: April 15, 2009. 

Jennifer Spaeth, 

Director, Office of Federal Advisory 

Committee Policy. 

[FR Doc. E9–9204 Filed 4–22–09; 8:45 am] 

BILLING CODE 4140–01–M 

DEPARTMENT OF HEALTH AND 

HUMAN SERVICES 

National Institutes of Health 

National Institute on Drug Abuse; 

Notice of Closed Meetings 

Pursuant to section 10(d) of the 

Federal Advisory Committee Act, as 

amended (5 U.S.C. App.), notice is 

hereby given of the following meetings. 

The meetings will be closed to the 

public in accordance with the 

provisions set forth in sections 

552b(c)(4) and 552b(c)(6), Title 5 U.S.C., 


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