Overview: The pilot feasibility core of the Developmental Synaptopathies Consortium (DSC) is pleased to announce that it will fund an estimated $40,000 total costs for a pilot project to stimulate additional research through the DSC NIH grant for one of the following disorders: Tuberous Sclerosis Complex (TSC), PTEN Hamartoma Syndrome (PHTS) and Phelan-McDermid Syndrome (PMS). The funding will be coordinated, dispersed and evaluated for progress through the DSC infrastructure.

Background: The DSC is a part of the rare diseases clinical research network and is composed of a group of 10 medical centers across the United States studying TSC, PHTS and PMS, disorders which often cause autism spectrum disorder and intellectual disability. The DSC has formed a Pilot Feasibility Core (PFC) to expand upon current studies/ trials while also incorporating new projects that target the focus areas recommended by experts and Patient Advocacy Groups (PAGs) with regards to TSC, PHTS and PMS.

Objective: The objective of the PFC is to serve as an engine and source of funding support for translational research across these three rare brain disorders to further our understanding of biological processes and development of novel therapies. The PFC aims to support collaboration across disciplines and take advantage of key infrastructure across the consortium to drive research that enhances not only clinical understanding but also bolsters community education and family engagement, in order to accelerate development of new therapies.

Focus areas: The prioritization of pilot projects will be based on focus areas determined by patient advocacy groups, DSC investigators and the external advisory committee members. Projects that are innovative as well as utilize the unique DSC clinical data (see Appendix), resources, biomaterials and infrastructure while being clinical trial ready will be prioritized.

Some priority areas of interest for the DSC include but are not limited to research that aims to:

  • Understand phenotypic heterogeneity through genetic and non-genetic means.
  • Improve standard of care and communication received by patients affected by these disorders
  • Improve knowledge of the disorders by building patient registries to better inform clinical guidelines for treatment of the disorders
  • Development of effective and targeted therapeutics for each disorder

Eligibility: Applications will be accepted from investigators interested in research on TSC, PHTS and PMS disorders or research across these and/or related disorders.

Process: Once we receive your application packet, the project evaluation will be conducted by an advisory committee, which consists of scientists who are considered as renowned experts and thought leaders in the field of neurodevelopmental disorders. In addition, the project will also be reviewed by representatives from patient advocacy groups. Other advisory board members may be added as determined by the subject matter of the proposed pilot studies. Pilot project proposals will be evaluated on the basis of scientific merit, regulatory approval, funding resources and the project’s contribution to the overall goals of the rare disease clinical research network.

The submission form must be received by 11:59p.m. E.S.T on February 15, 2023.