Steve Perrin, Ph.D. CEO/CSO presented several findings. He summarized a number of points made during his platform presentation at the 28th annual International Symposium on ALS/MND which was held in Boston on December 8th, 2017 (the largest annual gathering of ALS neurologists and scientists). Dr. Perrin shared preliminary findings harvested from the PMP data with the ALS doctors and scientists.
To date, 485 people have enrolled in ALS TDI’s Precision Medicine program. The program includes participants from nearly every US state and 21 countries. This pioneering partnership between ALS TDI and people living with ALS has resulted in the creation of a one-of-a-kind patient-linked database integrating ALS genetics, voice recordings, lifestyle, demographics and accelerometer data. Participants actively provide valuable data on a monthly basis. As of January 2017, participants have provided:
Voice Recording Analysis Collaboration with Google®
Over the course of 2017, scientists at ALS TDI and Google® collaborated to analyze the relationships between voice recording data and ALSFRS-R scores of PMP participants. This research partnership resulted in the development of an algorithm that predicts the ALSFRS-R speech score. This is accomplished by analyzing a short recording of a person’s voice.
Dr. Perrin presented examples of the data which precipitated the development of the algorithm. Examples of its application were provided. We are sincerely grateful to all those in the PMP who gave permission to use their names and their data. We only had time to show a couple of examples. ALS TDI and Google® plan to publish findings in 2018.
Accelerometers Just as Good as ALSFRS-R?
Wearable technology is at the forefront of personal healthcare and well-being. It was suspected that these devices may be able to provide more information on whether a person could maintain their ability to move independently and for a longer duration. Thanks to the hundreds of people who enrolled in the PMP, ALS TDI scientists are for the first time able to explore that question.
Scientists analyzed the four-limb accelerometer dataset across several years and compared that to the standard efficacy outcome measure (ALSFRS-R) used in ALS clinical trials. The accelerometers used by participants in the PMP accurately predicted the ALSFRS-R score. While additional validation and data analysis will be conducted, initial analyses suggest that the use of accelerometers in an ALS drug trial may reduce the length of a trial and number of patients required.
Dr. Perrin shared some of the analyses performed on the more than 11,000 accelerometer data sets provided by PMP participants. It demonstrated the statistically significant relationship between progression as measured by ALSFRS-R. We believe this is an important finding and publication of these results is imminent.
Genetics and Cell Based Work Update
ALS TDI has banked fibroblast lines from more than 300 people and the translational research team has created more than 70 iPS cell lines from that bank to date. Importantly, this team has differentiated those iPS cell lines in disease relevant lines, such as motor neurons and glial cells. The team identified several candidate cellular phenotypes which are being validated and studied further in advance of any drug screening. Updates on this work are expected soon, with publications pending.
Genetic research done by the team at ALS TDI has confirmed that the PMP cohort includes many people that harbor mutations in ALS-associated genes, such as SOD1, TDP43, C9orf72, etc. The team continues to analyze the whole genome datasets for clues regarding additional genetic variations in ALS, including connections to genes that may be associated with differing progression rates. Publication of these findings are expected soon.