Synergy in Action

Orphan Diseases WG Project Page

This page will serve as the project management page for all related Orphan Diseases Working Group activities. 

  • WG members may access shared materials through link below to drop-box. 
  • If you wish to upload materials to the online shared file, please email pdf to Robin Patterson
    • For non-released material, link will be provided to original article page for login.

Orphan Diseases Working Group Objectives

An increasing number of CNS studies are conducted under the orphan diseases umbrella; these studies pose a variety of special methodologic challenges including high placebo response, lack of accepted efficacy endpoints, lack of patient-centered quality of life endpoints, wide heterogeneity in patient presentation, heterogeneity of expected drug response, far-spread study centers, illness-related physical limitations on travel, and lack of research-trained investigators.

Approximately 7,000 diseases have been designated as “orphan,” (affecting less than 200,000 patients in US), with a high proportion of these occurring in childhood and thus qualifying for both pediatric and orphan drug regulatory incentives.  With these incentives in place for drug developers, it is likely that more and more ISCTM members will become involved with such studies and the methodologic challenges that characterize them. 

The working group will work toward identifying key issues, sponsoring symposia, suggesting best practices via ISCTM-approved white papers, and producing publications to help advance the field. 

The larger group has broken into three subgroups:  

— Patient Centricity
— Database of Instructive Case Histories
— Disease Registries

Link to all Orphan Diseases Project Materials