ALS genetic carrier finds the “path to higher ground” in clinical research
Mindy Uhrlaub is an advocate, an author, and a genetic carrier for Amyotrophic Lateral Sclerosis (ALS). After her parents both passed from ALS, Uhrlaub completed genetic testing to determine that she had the genetic markers for the degenerative diseases and would likely develop it.
Outsourcing-Pharma spoke with Uhrlaub to learn about her involvement in the EverythingALS study with IBM Research, MIT, and Harvard University. The study analyzes audiovisual submissions of participants with ALS, caregivers, genetic carriers, and those with a family history of ALS, and uses artificial intelligence (AI) to establish digital biomarkers of disease progression.
Genetic carriers of ALS, like Uhrlaub, are sometimes classified by clinicians and researchers of having the diagnoses “pre-symptomatic ALS”, however, she considers herself to be asymptomatic and plans to live her life as an asymptomatic person.
Uhrlaub told us that genetic carriers feel that “we are in a valley and a tsunami is coming” but she believes that “science is a path to higher ground” in terms of the outcome of the disease and its progression.
Part of the way in which she aims to live as an asymptomatic person, and reach “higher ground” is to engage in clinical studies for early disease detection and ALS treatments. She is currently enrolled in 12 longitudinal studies and is about to enroll in a clinical trial.
However, as a genetic carrier of ALS which there is no known cure for and on average, according to John Hopkins Medicine, individuals with the disease live three to five years after diagnoses, Uhrlaub is willing to engage with science to find any way to better diagnose and treat the disease. She stated, “I feel honored to get on a plane and donate spinal fluid somewhere. I feel honored to get on the phone and give digital biomarkers, because I feel honored to be alive.”
Uhrlaub explained, “It’s my great belief that the more eyes you have on people, the more people you’re going to save. If someone’s asymptotic or pre-symptomatic and you have two people looking at that person, they’re going to miss something.
“Like if I have bulbar onset ALS, than going to a neurologist and doing a strength test with my arms and legs is not going to show a bulbar onset, but a speech study definitely will.”
As the speech study creates digital biomarkers and analyzes her voice, movements of her mouth, and breathing patterns, she feels she is able to grasp a clearer understanding of her “ALS status.”
The speech study in partnership with EverythingALS is accessible through the online platform, Modality.ai, which allows participants like Uhrlaub to access the study from wherever they may be located.
“We torture ourselves to find a cure for this, and EverythingALS speech study is so painless. It doesn’t hurt, they give your results back immediately, they tell you your score every time. For someone who is pre-symptomatic to know I can still speak is very reassuring,” said Uhrlaub.
She told Outsourcing-Pharma that she encourages members of the ALS community, many of whom she connected with through EverythingALS, to do the speech study. She said she tells them, “You should do this it [the EverythingALS study] is an ace in your pocket.”
“ALS strips the patient’s ability to control their body,” said Uhrlaub. “But there’s something about participating in a speech study that actually helps you feel like you have a certain amount of control. At least, you have control over your data and you know where it is, and you can have it if you need it.”
