National ALS Biorepository

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Learn how ALS researchers from around the world can access and use ALS Biorepository samples as a valuable resource in their fight to identify the causes of ALS.

The National ALS Biorepository is a component of the National ALS Registry that adds to the existing pool of biological samples from persons with ALS available for research. There are approximately 79,900 samples being stored for the National ALS Biorepository, donated from 1,538 participants. These samples, along with the extensive epidemiological data collected by the National ALS Registry, are a valuable resource in the fight to identify the causes of ALS.

What is ALS?

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a rapidly progressive, fatal neurological disease that affects nerve cells in the brain and spinal cord, causing nerves in the muscle to die, thereby affecting voluntary muscle movement. On average, persons with the disease die within two to five years after being diagnosed. We still know very little about ALS, including its cause(s) and why ALS strikes some people and not others, but the Registry continues to work to better understand the disease.

Despite ALS being initially identified in 1869, the actual pathogenesis and cause remain unknown and there is currently no cure. The most consistently known risk factors for infrequent cases are being male, Caucasian, and older.

An estimated 5–10% of cases are attributed to heredity, while the cause for the remaining 90–95% is still unknown. For these latter “sporadic” cases, many potential risk factors have been explored such as smoking and alcohol consumption; exposures to heavy metals, pesticides, and volatile organic compounds; head trauma; and occupational exposures. Furthermore, more literatures suggest gene-environment interaction as a potential contributor to disease mechanism.

The National ALS Biorepository

The National ALS Biorepository collects, processes, stores, and distributes a variety of biological specimens such as blood, urine, and tissue from a sample of persons with ALS enrolled in the National ALS Registry who agree to take part in the Biorepository. In addition, the Biorepository collaborates with the Temple University ALS Postmortem Core to support and expand ALS research in the areas of biomarkers, genetics, and disease progression.

The National ALS Biorepository is different from other biorepositories because it collects specimens from a geographically representative sample of people with ALS in the U.S. that is not tied to a specific clinic or location.

Data for Researchers

Researchers can obtain complementary linked epidemiological data which are not usually collected by a biorepository (e.g., military history, family history, and occupational history). Samples are accessible to researchers around the globe regardless of institutional affiliation. In addition, unlike some biorepositories, the cost of collection and storage of samples is not passed on to researchers requesting samples. However, researchers can expect to incur a nominal per sample retrieval cost, along with shipping costs to deliver samples.

The National ALS Registry website includes information about the National ALS Biorepository as well as an application form for researchers who wish to request samples. Research proposals are reviewed to ensure that access to National ALS Biorepository resources is restricted to ALS research projects with appropriate oversight and protection of human subjects.

About the National ALS Registry

The National ALS Registry, maintained by the Agency for Toxic Substances and Disease Registry (ATSDR), is a congressionally mandated registry for persons in the U.S. with ALS.

The National ALS Registry is the only population-based registry in the U.S. that collects information to help scientists learn more about who gets ALS and its potential causes.

To learn more, visit the ALS Registry website.

Ongoing Studies Using Samples from the ALS Biorepository

Currently twenty-five studies are using samples from the Biorepository for research that contribute to the understanding of potential risk factors for ALS. Being able to link biological samples with the extensive epidemiological data in the Registry as well as having the genotype of those taking part in the Biorepository, makes the samples a unique resource. The variety of studies already using Biorepository samples illustrates its contribution to ALS research.

Description of Studies Using Samples from the Biorepository
Description of Project Group Conducting Analysis Sample Types Requested
Advanced Patient-Derived Microglia Assay for Preclinical and Clinical Trial Drug Validation QIMR Berghofer PBMC
Heavy metals and methylated DNA in sludge and wastewater: Population biomarkers for susceptibility to neurodegenerative diseases Arizona State University Urine
Biomarkers early-stage ALS detection University of British Columbia Plasma
Developing low-cost technology to detect ALS Biomarkers University of Illinois at Carbondale Serum
To evaluate the potential biomarkers of Amyotrophic Lateral Sclerosis (ALS) using biofluids University of Texas Rio Grande Valley Urine
ALS Subtype Biomarkers Cold Spring Harbor Laboratory CSF, precentral motor cortex, whole blood
Characterization and Identification of Biomarkers of ALS Disease Onset and Progression AbbVie DNA, plasma, RNA, serum, urine
Quantification of Self-Replicating Proteins in the CSF of ALS Patients and Disease Controls Center for Neurologic Study CSF
ALS miRNA Biomarker Brain Chemistry Labs Plasma
Targeting an Immune Pathway Disrupted by Multiple ALS-Causative Genes Harvard Medical School PBMC
Histologic investigation of extracellular innate checkpoint molecule CD47 in ALS motor neurons University of Pittsburgh Medical Center Precentral motor cortex, superior temporal tissue, cervical spinal cord
Development and validation of assays to determine target engagement in ALS clinical studies QurAlis CSF and plasma
The Influence of Inflammation in the Progression of ALS University of British Columbia Plasma
LBT-3627: A Novel Immunomodulatory Disease-Modifying Approach to ALS Treatment Longevity Biotech Inc. PBMC
RNA-Sequencing based drug discovery in ALS Cerevance, Inc. Lumbar spinal cord, precentral motor cortex, serum
Assessment of Unbound Free Fatty Acids in ALS Plasma Center for Neurologic Study Plasma
Biomarkers in neuronal exosomes for assessment of ALS progression University of California Los Angeles (UCLA) Serum
Novel extracellular vesicle and molecular biomarkers of environmental exposure and disease progression in ALS Columbia University Medical Center Hair, precentral motor cortex, spinal cord, whole blood
Metals analysis Centers for Disease Control and Prevention (CDC) Serum, urine, urine hg, whole blood
Genomic Analysis National Institutes of Health (NIH) DNA
Mitochondrial DNA and Micro RNAs in Amyotrophic Lateral Sclerosis Columbia School of Public Health Plasma, precentral motor cortex, cervical spinal cord, whole blood
Role of FUS protein in inflammation and neurodegeneration, as potentially applied to understanding the development of ALS Icahn School of Medicine at Mount Sinai Human primary cells, whole blood
ALS risk, exposure sources, and effects on the unfolded protein response pathway Dartmouth College Fingernails
Identification and characterization of potential environmental risk factors for ALS using the ATSDR ALS Registry cases and a control population University of Pittsburgh DNA, plasma
Targeting Ataxin-2 in Amyotrophic lateral sclerosis (ALS) University of Utah Human primary cells