ALS TDI has implemented a first-in-kind “In-Home” blood sample collection program to better leverage our partnership with people with ALS. Through blood sample collection, we are able to identify biomarkers in the blood that could help inform strategies to combat ALS disease progression.

A biomarker is a kind of biological “fingerprint” ¬¬– something about a living thing that can tell doctors or scientists something about that organism. They’re extremely important in diagnosing and managing diseases. Some common biomarkers associated with diseases include blood glucose levels for diabetes or LDL cholesterol for heart disease.

One of the most sought-after goals in ALS research is the discovery of a blood biomarker for the disease. Today, doctors and researchers must rely on subjective observations and questionnaires like the revised ALS Functional Rating Scale (ALSFRS-r) to track disease progression. Finding a blood biomarker ¬– something in the blood that correlates to the presence and severity of ALS symptoms – could mean finally being able to put an objective measurement to these questions. It could also provide an important benchmark for drug development ¬– possibly allowing researchers to see if the drugs they are testing in clinical trials are effective.

One of the best ways to find a biomarker for any progressive disease is to test blood samples from patients taken over time, or “longitudinally,” as their condition worsens. But requiring people with ALS to come into the lab regularly for a blood draw is a tough proposition – especially as the condition worsens and people’s mobility becomes more limited.

To meet this challenge, ALS TDI has established the first in-home blood collection program in ALS as part of its Precision Medicine Program (PMP). By partnering with Phlebotek, a mobile phlebotomy service, ALS TDI is able to collect samples from people living with ALS who are participating in the PMP without asking them to leave their homes.

Participants are invited by our team *according to certain criteria* from those already enrolled in the PMP. Currently approximately 45 of the 591 participants in the PMP are providing regular blood samples through the in-home program. In 2020, our goal is to collect samples from 30 additional PMP participants.

To execute the program, Phelbotek phlebotomists visit the homes of participants to take blood samples every three months. The samples are then be shipped from all over the country to ALS TDI’s lab in Cambridge, MA. Previously, PMP participants would have come to the lab for a one-time blood draw, which was useful for genome sequencing but didn’t provide the data needed to identify and validate biomarkers.

Now, having these regularly collected samples allows ALS TDI scientist to monitor things like RNA expression and whole blood counts, as well as measuring specific proteins in serum and plasma, that could be changing in the blood over time as the participants’ ALS progresses. Being able to identify properties that are changing in many blood samples as the study continues could point us to leads for potential ALS blood biomarkers. The large number of blood samples we collect over time, paired with all the rest of data we collect in the PMP, gives ALS TDI an exciting and unique opportunity to robustly validate biomarkers for ALS.


To learn more about the Precision Medicine Program, or to enroll, visit our PMP page here.