HNF developed the Therapeutic Research in Accelerated Discovery (TRIAD) in 2007 as a collaborative effort with academia, government and industry, to develop treatments for CMT. Currently TRIAD involves many groups that span the drug discovery, drug development, and diagnostics continuum.
Developed CMT2A (MFN2 mutation) mouse model
Refined the MFN2 mouse model for distribution among the CMT research community
CMT1A assay (PMP22 mutation) development
Low content screens in zebrafish with CMT2A (MFN2)
Provided the CMT1A rat model to test various therapeutics
With research reaching such advanced stages we propose that some efforts should be made to fill the various gaps in clinical studies, in order to translate therapeutics to patients more rapidly.
We propose that in order to translate preclinical advances to the clinic and result in successful therapeutics there should be 1) alternative outcomes measures for CMT; 2) demonstration that potential treatments are having an effect on the QoL of patients; 3) genetic testing panels to facilitate identification of patients for future clinical trials; 4) use of the GRIN database to capture patients for future clinical trials and 5) education of clinicians and patients as to therapeutic options for these diseases.
We are addressing all of these areas and more with our TRIAD collaborators.
- Sames L, Moore A, Arnold RJG and Ekins S, Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy, F1000Research, 3:83, 2014. http://f1000research.com/articles/3-83/v1
- Wood J, Sames L, Moore A, Ekins S, The multifaceted roles of rare disease parent / patient advocates in drug discovery, Drug Disc Today, 18: 1043–1051, 2013. http://www.drugdiscoverytoday.com/download/1215
- Beaulieu C, Samuels ME, Ekins S, McMaster CR, Edwards AM, Krainer AR, Hicks GG, Frey BJ, Boycott KM and MacKenzie, AE., A generalizable pre-clinical research approach for orphan disease therapy. Orphanet, 7(1):39, 2012. http://www.ojrd.com/content/pdf/1750-1172-7-39.pdf