Genetic Modifiers of Marfan Syndrome and Related Conditions

Case ID:
C14632
Disclosure Date:
2/27/2017
Description:
Unmet Need
Marfan syndrome (MFS) is a systemic connective tissue disorder with autosomal dominant inheritance, caused by mutations in the FBN1 gene. Clinical manifestations involve the ocular, skeletal, and cardiovascular systems with a broad phenotypic continuum with an expectation of severe and rapidly progressive disease in multiple organ systems, with the major cause of mortality resulting from aortic root dilatation, dissection and rupture. With proper management, the life expectancy of someone with MFS approximates that of the general population, however, there remains a need for methods of managing these MFS symptoms.
 
Technology Overview
Johns Hopkins researchers have identified three genes in a signal transduction pathway that influence disease progression of Marfan syndrome. Treatment of MFS is directed toward the specific symptoms that are apparent in each individual. Current standard of care drug therapies include: beta-adrenergic receptor blocking drugs (β-blockers), propranalol or atenolol; angiotensin receptor blockers (ARBs), losartan or irbesatan. (Habashi et al. 2011) identified the importance of TGFβ in upregulating the mitogen-activated protein kinase (MAPK) pathway which in turn demonstrated a selective activation of components of the MAPK pathway in driving aortic disease progression in MFS mice. Using a well-validated MFS mouse model and genetic mapping, upregulated MAP Kinase (MAPK) signaling, a common signal transduction pathway of genetic modification in MFS has been identified. This invention highlights the importance of inhibiting three MAPK signaling genes and indicates a broader clinical direction for therapeutic drug interventions which could ameliorate the potentially devastating cardiovascular, skeletal and ocular consequences of MFS. 
 
Stage of Development:
Preclinical
 
Publication(s):
MacFarlane EG et al., Cold Spring Harbor Perspect. Biol. 2017
 
Patent Information:
Title App Type Country Serial No. Patent No. File Date Issued Date Expire Date Patent Status
MAP KINASE PATHWAY TARGETS FOR THE TREATMENT OF MARFAN PCT: Patent Cooperation Treaty PCT PCT/US2018/020692   3/2/2018     Pending
Inventors:
Category(s):
For Information, Contact:
Nakisha Holder
nickki@jhu.edu
410-614-0300
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