Biomarker Studies to Accelerate Diagnosis and Identify Therapeutic Targets Northeast ALS Consortium (NEALS) Biorepository Infrastructure Improvement and Expansion Protocol

Research Summary

Principle Investigators: James Berry MD, Nazem Atassi MD & Merit Cudkowicz MD

The exact cause of amyotrophic lateral sclerosis remains unknown, and there are no tests to diagnose the disease or follow its progression. Such tests, known as biomarkers, would be invaluable to speed the development of novel therapies for ALS. In recent years, ALS scientists have begun to identify promising potential biomarkers in the blood and spinal fluid of people with the disease. The next step to build on these discoveries, in many cases, is to test larger numbers of biofluid samples to confirm the findings.

Biorepository Infrastructure Improvement

The Northeast ALS Consortium (NEALS) biorepository is a collection of biological samples, including blood and spinal fluid obtained from people with and without ALS or a related motor neuron disorder, which was created more than ten years ago as a resource for scientists conducting research in ALS. The biorepository is a centrally managed collection of samples that is shared freely among researchers. And, while the NEALS biorepository has facilitated the collection and distribution of thousands of research specimens, it holds promise to yield even more benefit as it grows.

Biorepository Expansion

The project also supports two projects that will expand the biorepository by collecting new biosamples from people with ALS and controls. The first is a continuation of the largest effort globally to collect longitudinal spinal fluid samples, blood, and clinical information from people with ALS. The second is a large-scale blood collection that will include clinician-researchers and ALS patients who have not previously had access to participation in ALS research protocols.

Impact of Study

Just as the “big data” movement swept retailers, medical researchers are now embracing the power of big data, and with it “big sample” analyses. This means storing and sharing an ever-larger number of samples with more data connected to them. As this happens, the NEALS biorepository is poised to take center stage. And, this growth will require more than just an increase in the number of samples collected. A structural and technological overhaul that fundamentally remakes the biorepository will be required as the expansion begins.

This project establishes a staff to lead the biorepository through its transformation to ensure that the improvements and expansion are of the highest quality. It will improve the biorepository’s information technology systems, the number of sample freezers and sites for sample storage, and the standard operating procedures for the repository. Furthermore, it funds two critical missions to expand the biorepository: first, by continuing a project that has already established the largest collection of longitudinal samples of blood and spinal fluid and, second, by initiating a project that will reach people with ALS who may not have had the opportunity to participate in other studies.

Common Goals

In summary, this project will ensure the NEALS biorepository remains a growing, modern, state-of-the-art, vital resource to the ALS scientific community. This shared biorepository has been important for prior biomarker discovery efforts and will command an increasingly important place in collaborative ALS science as a result of these improvements.

Find out more about gaining access to shared samples:


Massachusetts General Hospital
Merit Cudkowicz MD
Nazem Atassi MD
James Berry MD