Pillar 3 of the FAST Roadmap to a Cure 2.0 consists of therapeutic programs which focus on “downstream targets to treat symptoms” by addressing different molecular pathways and effector proteins impacted by the missing UBE3A protein.

Currently, we have four programs in the pipeline under Pillar 3 and one active human clinical trial:

• Exogenous ketone supplements
  • Purpose: Use of exogenous ketones to induce ketosis as a way to control seizures.
  • Company: Disruptive Nutrition 
  • Clinical trial completed.
• GABA_aɑ5 positive allosteric modulator (Alogabat)
  • Purpose: To restore deficient GABAergic signaling as a way to improve seizures and/or cognition.
  • Watch Dr. Brenda Vincenzi’s 2022 Science Summit presentation to learn more.
  • Company: Roche
  • Not yet recruiting for clinical trial – more details here.
• IGF-1, 2 ligands (NNZ-2591)
  • Purpose: To regulate IGF-1 and 2 availability to correct synaptopathy observed in individuals with AS.
  • Watch Dr. Nancy’s Jones’ 2022 Science Summit presentation to learn more.
  • Company: Neuren pharmaceuticals
  • Clinical trial currently recruiting – more details here.
• BDNF
  • Purpose: To use a downstream target of UBE3A to regulate learning and memory deficits.
  • Institution: Brown University