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Diagnosis and Prognosis of Fabry Disease by Detecting Neuronal Apoptosis Inhibitor Protein (NAIP) Expression
Case ID:
TAB-1446
Web Published:
12/6/2022
Description:
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.
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Direct Link:
https://nih.technologypublisher.com/tech/Diagnosis_and_Prognosis_of_Fabry_Dis ease_by_Detecting_Neuronal_Apoptosis_Inhibitor_Protein_(NAIP)_Expression
Category(s):
Licensing
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For Information, Contact:
Inteum Admin
NIH Technology Transfer
Inventors:
Raphael Schiffmann
Keywords:
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Fabry Disease
metabolic disorder
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