Diagnosis and Prognosis of Fabry Disease by Detecting Neuronal Apoptosis Inhibitor Protein (NAIP) Expression

Fabry disease is a severe metabolic disorder that affects the vascular system of multiple tissues and organs. An estimated 1 in 40,000 individuals inherit this rare disease, and suffer from various complications including stroke, renal failure, and cardiac arrest. At present, molecular markers that directly measure cellular dysfunction to not exist, thus, prognosis for Fabry disease therapy can not be assessed.

Available for licensing and commercial development is a rapid diagnostic assay to identify individuals with Fabry disease and an effective mechanism of evaluating enzyme replacement therapy. It provides a quick, inexpensive device for determining expression patterns of the neuronal apoptosis inhibitor protein (NAIP). Peripheral blood white cells of Fabry disease patients are analyzed for elevated levels of the marker NAIP, which is over-expressed in patients suffering from acute strokes. These elevated levels have been found in children with Fabry disease and point to the need for preventive therapies. Additionally, this test can be routinely utilized for evaluation of specific and non-specific therapies that aid in minimizing the complications associated with Fabry disease.

Potential Commercial Applications: Competitive Advantages:
  • Rapid diagnostic test to identify person at risk for Fabry disease.
  • Reliable diagnostic test to identify subject response to Fabry disease therapy.

Development Stage:
This technology requires analytic validation.


Raphael Schiffmann (NINDS)  ➽ more inventions...

Intellectual Property:

DF Moore, H Li, N Jeffries, V Wright, RA Cooper Jr, A Elkahloun, MP Gelderman, E Zudaire, G Blevins, H Yu, E Goldin, AE Baird. Using peripheral blood mononuclear cells to determine a gene expression profile of acute ischemic stroke: a pilot investigation. Circulation. 2005 Jan 18; 111(2):212-221. PubMed abs
Y Okada, H Sakai, E Kohiki, E Suga, Y Yanagisawa, K Tanaka, S Hadano, H Osuga, JE Ikeda. A dopamine D4 receptor antagonist attenuates ischemia-induced neuronal cell damage via upregulation of neuronal apoptosis inhibitory protein. J Cereb Blood Flow Metab. 2005 Jul; 25(7):794-806. PubMed abs
N Inohara, M Chamaillard, C McDonald, G Nunez. NOD-LRR proteins: role in host-microbial interactions and inflammatory disease. Annu Rev Biochem. 2005 Jul; 74:355-383.

Licensing Contact:
Admin. Licensing Specialist (ALS),

OTT Reference No: E-196-2006-0
Updated: Sep 1, 2006