Amyotrophic Lateral Sclerosis (ALS) Biorepositories
What is a biorepository?
A facility that collects and stores samples of biological material. Samples could include, but are not limited to blood, urine, tissue, DNA, cells, and proteins. Clinical data may also be stored.
What is the overall goal of the biorepositories?
The goal is to share the above information collected with ALS researchers worldwide to aide in finding effective treatments and a cure for ALS.
Which biorepositories does The ALS Association fund?
The ALS Association funds the NEALS ALS Consortium’s Sample Repository, sequencing of the DNA and collection of longitudinal biofluids corresponding with the Human Postmortem Tissue Core, The CReATe Biorepository, Cedars-Sinai Induced Pluripotent Stem Cell (iPSC) Core, and NeuroBANK. We also advocate for yearly congressional appropriations to the National ALS Registry that houses the National ALS Biorepository.
What is The ALS Association’s commitment to supporting ALS biorepositories?
By supporting ALS biorepositories, The ALS Association hopes to encourage people with ALS to donate critical samples to research. With this important information in hand, scientists will discover new ALS genes, develop biomarkers and better understand the disease pathways that cause ALS and the connections between ALS symptoms and genetic variance.
List of Biorepositories:
NEALS ALS Consortium’s Sample Repository
NEALS Biorepository collects biofluid samples from people with ALS and other motor neuron diseases and healthy individuals (controls) with accompanying clinical, clinical research and demographic information.
Types of sample collect: cerebral spinal fluid (CSF), DNA, cell line (fibroblast), PBMC (peripheral blood mononuclear cell), plasma, RNA, serum, urine, whole blood.
Repository locations: Neurological Clinical Research Institute (NCRI) at Massachusetts General Hospital and Barrows Neurological Institute (BNI); For additional questions about NEALS samples, please contact: Tara Lincoln, NEALS Program Director, 617-858-4277, tlincoln@neals.org
Link for more information: https://www.neals.org/for-als-researchers/neals-sample-repository/
Link for sample search: https://www.neals.org/for-als-researchers/neals-sample-repository/neals-and-ncri-sample-inventory
The National ALS Biorepository
A permanent component of the National ALS Registry that includes samples from people with ALS (with consent) who are enrolled in the Registry. The Agency for Toxic Substances and Disease Registry (ATSDR) developed a plan for creating this Biorepository with help from external experts that describes the best way to collect, store, and share biological samples. Samples are collected in-home or post-mortem.
Types of sample collected In-home are blood, urine, hair, and finer nail clippings. Postmortem part involves donations of brain, spinal cord, CSF, and pieces of muscle, skin, and bone from people with ALS after they have died.
Location: CDC; If you have questions about the National ALS Biorepository please call 1-855-874-6912 or email questions to alsbiorepository@secure.mcking.com (Monday through Friday from 8:30am to 5pm ET).
Link for more information: https://wwwn.cdc.gov/als/ALSNationalBiorepository.aspx
Link for sample search: https://wwwn.cdc.gov/als/ALSResearcherBiorepositoryInformation.aspx
Human Post-mortem Tissue Core
A multi-center policy is in place to harmonize standardize operating procedures (SOPs) for donor recruitment, tissue acquisition, processing, storage, histopathological characterization, and archiving have been put in place to ensure the highest quality post-mortem tissue samples.
A new open-access, high-quality whole genome sequenced dataset from post-mortem tissue samples is freely available to investigators in the New York Genome Center’s recently launched MetroNome clinical genomics database. For more details and to access MetroNome, go to: https://metronome.nygenome.org/TargetALS/
Types of sample collected: post-mortem tissue
For more information contact: Kenneth Devaney at kenneth.devaney@targetals.org, (646) 592-2541 (EST) or fill out contact form
Link for more information: http://www.targetals.org/about-us/how_were_organized.html#how_were_organized_core_facilities (See Core facilities section)
Link for biological sample search: http://www.targetals.org/inventory_search.html
The Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium Biorepository
A repository of biological samples collected from patients participating in the Phenotype-Genotype-Biomarker (PGB) protocol (NCT02327845). This study includes patients with ALS, ALS-frontotemporal dementia (ALS-FTD), primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), hereditary spastic paraplegia (HSP), and multisystem proteinopathy (MSP). The biorepository contains a broad array of biological samples collected from every participant at each study visit
Types of sample collected: DNA, plasma, buffy coat, serum, RNA, PBMC, CSF, urine
Location: Miami, FL, please, find contact information here
Link for more information: https://www.rarediseasesnetwork.org/cms/create/researchers/biorepository
Link for sample search: The ability to request samples is coming soon. Contact projectcreate@med.miami.edu for questions.
More information about CReATe is here and here.
Cedars-Sinai Induced Pluripotent Stem Cell (iPSC) Core
The Core uses the latest techniques to reprogram, expand and characterize human iPS cells from human skin or blood tissues of healthy subjects and diseased patients. iPS cells are differentiated into specific cells of the human body, including components of the nervous system, eyes, blood, bones, heart, gut, liver, and pancreas, for use by researchers. Some applications of this technology include human "disease modeling-in-a-dish," developing human reporter cell lines via genetic modification, drug screening on pathological human cell types, and potentially developing cell replacement or regenerative therapies.
Types of sample collected: human skin or blood tissue to produce iPS cells
Location: Cedars-Sinai; Contact Core’s Director, Dr. Dhruv Sareen: dhruv.sareen@cshs.org for more information
Link for more information: https://www.cedars-sinai.edu/Research/Research-Cores/Induced-Pluripotent-Stem-Cell-Core-/
Link for sample search: https://www.cedars-sinai.edu/Research/Research-Cores/Induced-Pluripotent-Stem-Cell-Core-/Services-and-Prices.aspx and list of the cell lines available: https://www.cedars-sinai.edu/Research/Research-Cores/Induced-Pluripotent-Stem-Cell-Core-/Stem-Cell-Lines.aspx
The National Institute of Neurological Disorders and Stroke (NINDS) Human Cell and Data Repository
The NINDS is committed to providing well-characterized cell sources to both academic and industry investigators to advance the study of neurological disorders. Cell sources currently include fibroblasts and/or induced pluripotent stem cells for Alzheimer’s disease, ALS, Ataxia-telangiectasia, Frontotemporal Lobar Degeneration (FTD), Huntington’s disease, Parkinson’s disease, and healthy controls. Cell sources, including isogenic cell lines for current and new diseases covered by the NINDS will be added over the next several years. The NINDS Human Cell and Data Repository (NHCDR) provides new tools for analytics, searching and ordering for all components of the repository.
Types of sample collect: fibroblasts and induced pluripotent stem cells (iPSCs)
Location: NINDS and contact information here
Link for more information: https://nindsgenetics.org/
Link for sample search: https://stemcells.nindsgenetics.org/
NeuroBANK™
A clinical research program that provides infrastructure and core services to the international ALS research community to accelerate patient-centric clinical research. The program includes creation of common data elements and standard operating procedures for use in clinical research, establishment of a neurological Global Unique Identifier (GUID), which uniquely identifies a person with ALS and links clinical data acquired across multiple studies to biobanks, DNAs, image collections, and patient-reported outcomes. The program is designed to facilitate the integration of information across research projects, and allows provision of core services including study configuration and development, data curation and management, user training, and data analytics. Availability of free services and standardized data from multiple projects, including large research studies like ALS, the New York Genome Center DNA project, and Genomic Translation for ALS Care (GTAC). NeuroBANK Core shares data for worldwide use by clinicians, scientists, and industry that is expected to allow data mining at a level not previously available in ALS research. This may lead to better understanding of patient subtypes, clinical biomarkers of the disease and disease progression, and responses to therapy.
Types of samples collected: NeuroBANK is a patient-centric clinical research platform that allows capture and aggregation of clinical and clinical research data from simultaneously running research projects and links these data with biospecimen repositories, image banks, and genetic information.
Location: Neurological Clinical Research Institute (NCRI) at MGH with Principal Investigator Alexander Sherman; If you have an ALS-related research project and would like to utilize free NeuroBANK platform and core services, please contact: neurobank@partners.org. If you have any further questions, please contact the Core directly at: 855-ASK-NEURO or ncrisupport@partners.org
Link for more information: https://projects.iq.harvard.edu/neurobank/overview and Key Elements to NeuroBANK: https://projects.iq.harvard.edu/neurobank/key-elements
Link for sample search: https://nctu.partners.org/neurobank/ (need username and password); Dataflow chart for more information.
Answer ALS Biosample and Data Library
A U.S. based consortium of 8 clinics and 7 laboratory operations with the goal to identify ALS biological subgroups through longitudinal clinical and biological analyses of up to 1,000 sporadic and familial ALS patients and 100 control subjects. The program includes the generation of patient-derived induced pluripotent stem (iPS) cell lines and multi-omics analytics of motor neurons. Biosamples include longitudinally collected biofluids procured at each clinic visit (whole blood, plasma, serum, CSF), along with matched iPS cell lines generated from each patient. Clinical data matched with extensive ‘omics data generated from iPS-derived motor neurons (whole genome, transcriptome, epigenome, proteome, and metabolome) will be made available from each patient. Web portal access and requests are now under development. All samples and data will be shared as they become available with the ultimate goal of establishing 1,000 unique ALS and 100 control profiles.
Types of biosamples: plasma, serum, CSF, whole blood, iPS cell lines Types of biological data: whole genome (available now), transcriptome, proteome, epigenome, metabolome, and microbiome (coming soon) Types of clinical data: Longitudinal NeuroBANK clinical observations, automated cognition, app-based assessments of motor activity, and breathing capacity (surrogate measures)
Repository locations:
Clinical data: Massachusetts General Hospital Neurological Clinical Research Institute (NCRI), Director Alexander Sherman; To join NeuroBANK please contact: neurobank@partners.org. If you have any further questions, please contact us directly at: 855-ASK-NEURO or ncrisupport@partners.org
Biorepository: Massachusetts General Hospital Neurological Clinical Research Institute (NCRI).
Link for biorepository information.
For questions about biorepository samples, please contact: Tara Lincoln, NEALS Program Director, 617-858-4277, tlincoln@neals.org
Induced Pluripotent Stem Cell Core: Cedars-Sinai, Los Angeles, Calif.
Link for iPS cell information
For questions about iPS cell lines, please contact 310-423-7074 or ipsccore@cshs.org or Dhruv Sareen, iPSC core director, at Dhruv.sareen@cshs.org
For ‘omics data requests or general program information contact:
Dr. Emily Baxi, Program Manager Answer ALS, Johns Hopkins University: ebaxi@jhmi.edu or Dr. Jeffrey D. Rothstein: jrothstein@jhmi.edu
National Cell Repository for Alzheimer’s Disease (NCRAD)
This biorepository stores samples for the following studies to help researchers find genes that are associated with Alzheimer’s disease (AD) and dementia. The Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Consortium includes academic medical centers partnered with patient support organizations dedicated to conducting clinical research in sporadic and familial frontotemporal lobar degeneration (FLTD) syndromes. Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) is a longitudinal, multi-center study enrolling participants from families with known mutations in one of the three genes most commonly associated with FTLD: MAPT, GRN, and C9ORF72. This study is aimed at understanding familial frontotemporal lobar degeneration (FTLD). The goal of both projects is to discover new biomarkers for disease activity, standardize diagnostic criteria, and identify a large group of potential participants for clinical trials of new therapeutic agents. Both studies are funded by the National Institutes of Health (NIH).
Types of sample collect: DNA, RNA, plasma, serum, peripheral blood mononuclear cells (PBMCs), cerebral spinal fluid (CSF)
Location: San Francisco, Calif. and contact information here
Link for more information: https://www.rarediseasesnetwork.org/cms/artfl/ and https://ftd.med.upenn.edu/get-involved/lefftds-artfl-consortium
Link for sample search: https://ncrad.iu.edu/accessing_data.html
