By Jonathan Gang, Communications Manager, ALS Therapy Development Institute  |  May 27, 2020

ALS and Precision Medicine: Learning from Patients Worldwide

The ALS Therapy Development Institute  (ALS TDI)  is a comprehensive drug discovery lab focused solely on amyotrophic lateral sclerosis (ALS). ALS is a progressive neurodegenerative disease that attacks the nerves responsible for voluntary movement. People with ALS can ultimately become completely paralyzed and the average life expectancy is usually between 3 and 5 years after diagnosis.

At ALS TDI, researchers believe that learning about ALS from people who have ALS is a key to discovering and developing treatments. ALS TDI is able to achieve this through their Precision Medicine Program (PMP), the most comprehensive and longest running translational research study in ALS. Largely a telehealth initiative, the PMP enables ALS TDI to learn from people with ALS around the world, often without ever asking them to leave their homes.

Partnering with the ALS Patient Community

The PMP was developed in 2014 after the ALS TDI science team recognized that they needed to partner directly with people with ALS to better understand the mechanisms of how ALS affects the body. This was enabled by the emergence of new technologies in the fields of cell biology and biometrics relating to body movement, voice, and potential to detect markers of disease in blood.

Through the PMP, researchers at ALS TDI partner with people living with ALS to share and gather data about voice, movement, lifestyle, medical and family histories, genetics, biomarkers, and patient cell biology to better understand the disease. The goal is to use these data to aid the discovery of new targeted treatments for ALS and make clinical trials faster and more efficient, all while empowering people living with ALS by giving them access to their personal data.

Fernando Vieira

Fernando Vieira, MD, ALS TDI Chief Scientific Officer

“The Precision Medicine Program is unique in multiple ways,” said Fernando Vieira, MD, ALS TDI chief scientific officer. “ALS is a heterogenous disorder, meaning it can affect each patient differently. The PMP acknowledges that the person with ALS is the expert of their experience with the disease. We partner with them to learn from their experiences and couple that essential information to the data generated by our scientists and technicians in the lab in Cambridge. We believe that relating these data can ultimately demystify the processes that drive ALS and reveal pathways for the efficient development of helpful medicines to treat ALS.”

Inviting ALS Patient Participation

Participation in the PMP is free, and anyone with ALS can add their data to PMP—regardless of where they live or how far their symptoms have progressed. Participants, who sign up on ALS TDI’s website, are asked to provide several different categories of data about themselves and their condition. At the outset of their participation, and every three months thereafter, they complete a personal background survey covering things like lifestyle, medical history, occupation, and ALS symptoms. Each month, they are asked to complete the ALS Functional Rating Scale (ALSFRS-R), a widely used survey for tracking ALS disease progression.

What truly sets the PMP apart, however, is the wealth of quantitative data collected in addition to these subjective questionnaires. Participants who meet certain criteria are provided with accelerometers – devices that can be worn on the wrists and ankles to track the movements of each limb. Worn for three days each month while participants perform a directed series of movements, these accelerometers provide precise data about how each participant’s ALS progression is affecting their motor function. Similarly, participants can track how the disease is affecting their speech. They are asked to record a series of phrases every month over phone. These recordings are then analyzed through techniques developed in collaboration with Google artificial intelligence researchers.

In-Home Blood Collection

Additionally, participants can provide biological data by submitting blood and cell samples. To alleviate the burden of coming into the ALS TDI’s Cambridge, Mass., laboratory for blood collection, the institute has established a first-in-kind in-home blood collection program. Participants, who often have limited mobility, are visited in their homes by mobile phlebotomists contracted by ALS TDI, and the samples are sent to the lab through the mail. ALS TDI utilizes these samples for projects including harvesting cells for drug testing and searching for potential biomarkers that could be used to provide a biological measure for tracking ALS disease progression.

Since its launch in 2014, more than 600 people living with ALS from all over the world have enrolled in the PMP. These volunteers have provided more than 20,000 survey responses, 13,500 voice recordings, and 15,000 accelerometer data sets. In addition to helping support ALS TDI’s research to find effective treatments for ALS, the program also provides these participants with access to their own individual data. Participants can use ALS TDI’s secure online portal to view their data and track disease progression, providing them with valuable information to make more informed decisions about their treatment and care.

“We hope that the information we share back to the participants about their own symptom progression informs them about how their activities and interventions might be influencing their outcomes,” added Dr. Vieira. “We’ve received a lot of feedback that the information can be empowering to a person living with ALS.”

For more information about the PMP, including how to enroll and participate, visit ALS TDI.

A Message from Our Sponsor

Real World Health Care blog sponsor, the HealthWell Foundation, provides financial assistance to people living with ALS. Through the fund, HealthWell will provide up to $15,000 in copayment or premium assistance to eligible patients who have annual household incomes of up to 500 percent of the federal poverty level. To learn more, visit HealthWell’s Amyotrophic Lateral Sclerosis Fund page.