The donation of biological samples is critical to accomplishing the goal of developing urgently needed treatments for ALS. While there is currently no cure for ALS and other motor neuron diseases, research has led to substantial progress and a greater understanding of the disease now than ever. However, there is much more to accomplish if we are to diagnose the disease early and efficiently examine effective treatments.
Why is sample donation important to ALS research?
Collecting and storing biological samples, both fluid and tissue, from people living with ALS provides a source of materials from the disease that can be examined to identify biomarkers and genetic factors that play a role in ALS. This allows researchers to study how the disease progresses, how to facilitate treatment most effectively, and how to observe any surfacing trends, patterns, and sub-types.
Biomarkers are molecules found in body fluids and tissues that can reveal an abnormal process, such as a condition or disease. As a result of this, biomarkers can help develop treatment in several ways. First, they can provide a way to diagnose a disease earlier, thereby enabling earlier treatment. Biomarkers can also help stratify a disease into subtypes, i.e. different varieties based on the driving mechanism, resulting in personalized treatment strategies. Biomarkers can also help to determine that a treatment accomplished what it was designed to do. And, they can make trials more efficient by detecting a treatment effect on disease before clinical changes are evident.
The study of the genetic make-up of people living with ALS is also important to help progress our understanding of how ALS is initiated and ultimately help treat ALS. Already there have been over 40 genes identified that when damaged contribute to ALS. These genes provide the blueprint for important proteins. Understanding the role of these proteins in motor neurons has led to an increased understanding of motor neuron biology and what can go wrong in both familial and sporadic ALS. Further treatments can target these abnormal genes in familial ALS and the implicated pathways in sporadic (nonfamilial) ALS. We know that even more genes must be identified and collecting DNA from all people living with ALS will be a key factor in discovering important genes related to ALS and other motor neuron diseases.
How can I donate?
Multiple NEALS sites are actively collecting samples. While some sites may not be currently initiating research with their available samples, samples will be saved and banked for future ALS research. This serves as a vast resource and tool for researchers to utilize as new areas of ALS research emerge.
Samples are needed from people living with ALS and their family members and also from controls, or people who are free of the disease. If you choose to donate, you will learn more about the specific procedures and outcomes measures through the consenting process. Specifically, the following samples are being sought:
- Cerebrospinal fluid (CSF)
- Whole blood
- Extracted DNA
- Post-mortem tissue
Sample donation is an immeasurable gift to those living with ALS and their families and we thank you for considering a donation.
You can review our list of currently recruiting studies to find opportunities to donate samples. We also encourage you to talk to your ALS physician about donation opportunities that may be available locally. In addition, the Target ALS Biomarker Study is a multicenter study that is currently collecting samples.