Title: Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies
Affiliation: University of New South Wales and University of Melbourne
Authors: Elizabeth Palmer, Katherine Howell and Ingrid Scheffer
Reference: Neurotherapeutics 2021;18:1432-1444
We thank Dr David Cunnington for providing us with a summary of this work.
- Assessing the effectiveness of new treatments requires a deep understanding of the interaction between gene changes and physical symptoms as well as how a condition evolves or changes over time.
- NHS provide this in a way that simpler registry studies do not, as the breadth of data collected prospectively over time gives valuable information that helps with:
- Design of clinical trials and selection of outcome measures that are important and relevant to patients and their families as well as reducing disability and mortality.
- Providing historical control data – ie what happens to people with a particular DEE without treatment – which is essential for drug registration and ultimately reimbursement. Without this data to demonstrate ‘bang for buck’ with these expensive treatments they may never be funded.
- Identifying sub-groups of patients within specific DEEs who may derive greater, or lesser, benefit from a particular treatment