Case #4 Fragile X Syndrome

Question 1

What translational research is being done

Answer 1

Novartis- drug AFQ056

Roche- phase II for mGLUR5 antagonist, RO4915523

Seaside Therapeutics- GabaB R agonist, closely related to existing drug BACLOFEN

Afraixs- developing PAK inhibitors (p21-activated kinase)- regulates development/activity of dendrittc spines

GSK3 (glycogen synthase kinase 3) - regulates cellular structure, growth, motlity, apoptosis

Phosphodiesterase-4 inhibitors (PDE4)- catlayzes hydrolysis of cAMP and represents key point in reuglating intracellular cAMP levels

Question 2

Goal in Fragile X Syndrome

Answer 2

ameliorating the sympsom, not reparing genetic mutations

Question 3

How many peopel does FXS affect in the US (male vs female)

Answer 3

Male- 1/2500-4000

Female 1/7000-8000