The CNS Gap
Although morbidity due to CNS involvement in myotonic dystrophy represents a key component of the burden of disease, research efforts to understand CNS involvement pale in comparison to the attention paid to skeletal muscle symptomatology. In part, this is a consequence of pragmatism in clinical trials—the advanced status of the pharmacodynamic marker (i.e., splicing abnormality assessment in small muscle biopsies) ensures rather rapid feedback of target engagement and modulation that does not currently have a parallel in any CNS measure. However, when pharmaceutical and biotechnology firms evaluate the tractability of myotonic dystrophy for their own investments, they recognize the burden of disease and frequently raise questions about the measurement of CNS symptoms in clinical studies and trials.
Recognizing and Addressing the CNS Problem
Following the MDF’s externally led Patient Focused Drug Development meeting with FDA, MDF used a similar approach to obtain patient and caregiver feedback on cognitive issues in DM1 and DM2. This effort represents just an initial step in improving understanding and assessment of CNS symptomatology in DM.
MDF is now in the early stages of planning of a CNS Outcome Measures Workshop, that will be held immediately before the 2019 MDF Annual Conference, in Philadelphia, PA, on September 12, 2019. This workshop is designed to bring together experts in academia, biotech/pharma, and regulatory agencies to review status of and offer guidance to improve CNS clinical endpoint measures and biomarkers for studies and interventional clinical trials in DM. Since the workshop will be held in conjunction with the MDF Annual Conference, participants will be able to take advantage of both events. The workshop will be open to all researchers with interests in the CNS consequences of DM.
The workshop will focus on CNS measurement techniques, determining the strengths/weaknesses of potential measures that are either in current development or have potential usefulness for DM. The intent is a heavily discussion-based workshop to critically evaluate existing/potential measures and suggest a path forward so a panel of measures is suitable and ready for rigorous clinical trials. Input from those who encounter similar problems through work in other neurodegenerative diseases will represent an important part of the program.
More information will be available in future editions of the MDF Research News. Please watch this space and save the date:
CNS Outcome Measures Workshop
Omni Hotel Philadelphia
September 12, 2019
With the 2019 MDF Annual Conference to follow on September 13-14, 2019.