Novel Treatment to Ensure Efficacious Dosage for Multiple, Rare Genetic Diseases

Technology Overview

Clinicians use a common, FDA approved drug to treat symptoms such as seizures and self-aggressive behavior. In some genetically identified patients, too low of a dose is not effective and too high of a dose is not optimal. Sub-optimal dosing may also cause sleep problems, dyslipidemia, diabetes, and growth problems.  We are working on refining the dosing regimen for patient sub-populations.  

Applications

Smith Kingsmore Syndrome, Tuberous sclerosis, PMSE, and other similar genetic diseases.

Advantages

• Repurposing an FDA approved drug.
  
• A biomarker for optimal dosing.
  
• Strategy likely applies to other mTORopathies.

Investigator Overview

John Hogenesch, PhD & Carlos E. Prada, MD, Co-Director, Rasopathy Program