Lead Inventor: Jane H. Morse, M.D.



Problem or Unmet Need:

Familial Primary Pulmonary Hypertension (FPPH) is a rare autosomal dominant disorder. It is characterized by monoclonal plexiform lesions of proliferating endothelial cells in pulmonary arterioles that lead to elevated pulmonary artery pressures, right ventricular failure, and death. The disease can occur from infancy throughout life with a mean age of onset of 36 years and has a 2:1 ratio of affected females to males. Without intervention, the median survival is less than three years after diagnosis. Although FPPH is rare, cases secondary to known etiologies are more common and include those associated with the appetite suppressant drugs, including phentermine-fenfluramine.



Details of the Invention:

This invention provides a method of detecting whether a subject is either predisposed to or afflicted with a pulmonary disease which comprises (1) obtaining a suitable sample from the subject; (2) detecting in the sample a bone morphogenetic protein receptor-II mutation which is not present in wild type bone morphogenetic protein receptor-II, wherein the presence of a mutation indicates that the subject is predisposed to or afflicted with the pulmonary disease. In one embodiment, the pulmonary disease is Familial Primary Pulmonary Hypertension.



Applications:

• Detecting if a subject is either predisposed to or afflicted with a pulmonary disease e.g. FPPH, where the subject is suffering from an asthmatic symptom (such as wheezing or intermittent shortness of breath), to prevent a subject afflicted with FPPH from being misdiagnosed as asthmatic
  
  
• Treating and/or preventing FPPH in a subject
  
• Providing gene therapy and compounds that act as therapeutic agents for treatment of FPPH
  

Advantages:

• A novel method of detecting if a subject is either predisposed to or afflicted with FPPH, comprising obtaining a sample, and detecting in the sample
  
• Able to screening for a compound capable of treating FPPH, by contacting a cell expressing BMPR-II with the compound and determining if the compound is capable of reversing the functional deficit present in FPPH in the cell
  

Patent Status: Patent Issued (US 6,800,440) ~ see link below.



Licensing Status: Available for Licensing



Other Links:

• USPTO - US 6,800,440

Further Information
Sara Gusik
Email: TechTransfer@columbia.edu

File Number: 1071