STRATEGIC RESEARCH ROADMAP

​PATH TO A CURE

1.  BUILD ADNP "MODELS"

• Mouse Models (Joe Buxbaum, Seaver Center c.2188 knockin mouse held at Mount Sinai and Frank Kooy, Belgium mouse at JAX Labs)
• Patient specific pluripotent stem cell models (5 ADNP patient iPSCs are held at Mount Sinai Seaver Center as well as a line at University of Washington)
• Zebrafish Models

2.  STUDY THE MODELS

• Understand the impact of ADNP mutations on the brain and body:  Molecular, cellular and behavioral
• Identify robust biomarkers and endpoints (diagnostic biomarker identified, visual evoke change biomarker, and 2 types of methylation in ADNP) (endpoints are being validated through phase 2 FDA ketamine drug trial)
• Learn what time-points are effective for treatments 

3.  TEST THERAPIES ON MODELS

• Screen approved drugs
• Identify and screen various therapies including: Gene Therapies, ASOs. etc.
  

4.  SAFETY STUDIES

• Conduct toxicology and efficacy of new successful drugs and therapies on wild animal types 

5.  PATIENT CLINICAL TRIALS

• ​FDA and International Regulatory Agency review
• (*2021 - Conducting efficacy and safety phase 1/2 FDA low dose ketamine drug trial)

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