On April 1 members of the Tuberous Sclerosis Complex (TSC) Preclinical Consortium met in Silver Spring, Maryland to discuss ongoing preclinical projects and set priorities for the rest of the year.


Kari Luther Rosbeck, TSC Alliance President and CEO, discussed the impact of TSC-Associated Neuropsychiatric Disorders (TAND) on the TSC community, elevating the urgency for the TSC Alliance and Preclinical Consortium to develop a preclinical plan to address the need for therapies (drugs) targeting TAND including aggression, sleep and anxiety.

The members discussed the scientific background of SmartCube for an opportunity to evaluate behavioral TAND phenotypes in mouse models of TSC, including TSC2+/-, TSC1 GFAP-Cre and L7- Cre-driven knockouts (lacking TSC1 or TSC2 in cerebellar Purkinje cells).

One company member furthered the discussion on TAND, presenting on their artificial intelligence technology for the identification of approved drugs for addressing epilepsy and TAND. To this end, the member has evaluated “published” data in TSC, but to further refine their algorithm they are seeking cell-based models and unpublished omic data by forming a collaboration with consortium academic and industry members.

Angelique Bordey provided an overview of her TSC and focal cortical dysplasia mouse model (RhebCA in utero electroporation). Members recognized the significance of the model, particularly for PK/PD drug studies due to the frequency of seizures.

To further build collaboration in the consortium, members discussed the development of a portal to share Bucket A data with consortium members and a request to include Bucket C data from control groups (e.g., vehicle, rapamycin) and any other data that does not jeopardize IP.

To increase Preclinical Consortium exposure and encourage new investigator and industry participation, “white-papers” describing the consortium, the models and data will be developed.

Interested in learning more about the TSC Preclinical Consortium? Contact Dean J. Aguiar, PhD, TSC Alliance Director of Preclinical Research.