Ice Bucket Challenge funds will help to expand information-sharing network for ALS research
Ice Bucket Challenge funds will help to expand information-sharing network for ALS research

Given all the attention that amyotrophic lateral sclerosis (ALS) has received over the past few years—due in large part to 2014’s wildly successful Ice Bucket Challenge—it may be surprising to learn it is considered a rare disease in the United States.

As defined by the National Institutes of Health (NIH), a rare disease is one that affects fewer than 200,000 people across the country. There are 7,000+ rare diseases affecting over 25 million Americans and their families, and only about 500 have FDA-approved treatments available.

ALS, or Lou Gehrig's disease, is a progressive neurodegenerative disease that affects the nerve cells in the brain and spinal cord. Approximately 20,000 people in the United States have ALS at any given time, according to the ALS Association's website.

It has traditionally been difficult to persuade drug companies to pursue treatments for rare diseases such as ALS. The cost of developing new drugs is extremely high, and with a limited market for new treatments (due to the relatively low number of patients), companies are hard-pressed to recoup their investment.

Thus in order for a company to take on drug development for a rare disease, there have to be clear biomarkers (measurable indicators of disease) and outcome measures (goals for treatment), so the company is able to demonstrate that the drug is effective.

"To do this, you need a lot of information, including clinical and phenotypical data, DNA, images, biorepositories and natural disease histories,” explains Alex Sherman, Director of Strategic Development and Systems at the Neurological Clinical Research Institute at Mass General and a Principal Associate in Neurology at Harvard Medical School.

Recently, $3.6 million of the funds raised by The ALS Association through the Ice Bucket Challenge and the ALS Finding a Cure® foundation came to Mass General in a grant to support NeuroBANK™, an online platform that was created to address the challenges of compiling clinical and research data for ALS and other rare diseases.

NeuroBANK is an accelerated research platform that enables the sharing and aggregation of data from consenting patients between ALS researchers and across studies. It was conceived by Sherman, the project’s Principal Investigator, in 2005 and went live in 2013.

Investigators who participate in a NeuroBANK study utilize a common database with common fields to capture their participants’ data. This eliminates the time and expense of creating a new database for every study, and also ensures that researchers are collecting and reporting on common datapoints, which is crucial in rare disease studies where patients are often spread out over large geographical distances.

To allow aggregation of data from the same patient from multiple studies, regardless of where and when that information was acquired, the NeuroBANK team has introduced the Neurological Global Unique Identifier (NeuroGUID). The NeuroGUID is a universal patient identifier that allows researchers to share data that is specific to a study participant without exposing personally identifiable information. This NeuroGUID serves as a key to link data between studies in NeuroBANK.

After each NeuroBANK study is completed and the results are published, the data from the study is de-identified and released into a central pool of disease-specific information that is available to anyone to create solutions and new approaches to understanding ALS.

Thus, if a patient participates in one study focused on genetics and another focused on imaging, the data from both will eventually be combined, providing a more complete picture of the patient's clinical history.

NeuroBANK not only makes it possible to share patient data (or this patient’s data) post-trial, it also enables data sharing between investigators who have agreed to work together. Certain agreed-upon data fields such as demographics, disease and family histories will be automatically shared between the studies based on the terms of the collaboration. This saves time for researchers and reduces the need for patients to provide the same medical history every time they participate in a study.

The new funding will allow ALS researchers worldwide to use the NeuroBANK platform free of charge. Currently, there are 22 simultaneously running ALS-related multi-site clinical research studies with the total enrollment goal of 6,000 research participants  supported by the NeuroBANK team.

The hope is that the accumulated data, once it is compiled, de-identified and released, will provide crucial insights for the investigation of new drugs and contribute to the ultimate goal of finding a cure for ALS, says Sherman.

NeuroBank team

Members of the NeuroBank team with Anne Klibanski, MD (far left), Chief Academic Officer for Partners HealthCare and Peter Slavin, MD, (far right) President of Massachusetts General Hospital.

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