National ALS Biorepository Inventory

Purpose

Learn about the biospecimens collected by the National ALS Biorepository

lab tech pipetting into test tubes.

National ALS Biorepository

The biospecimen collection samples were collected from a consented subset of persons with ALS in the National ALS Registry. For some participants, GUIDs (Globally Unique Identifiers) are available, which can link participants to samples and data previously collected in other studies or other clinical studies that use GUID system

In-home Collection

Biospecimen

  • The National ALS Biorepository stores DNA, RNA, fibroblasts, PBMC's, plasma, serum, whole blood, and red blood cells from premortem collections.
  • All biospecimens are processed using standard procedures and made into standard sized aliquots (see table above) to avoid freeze/thaw cycles.
    • Hair and nail clippings are stored at ambient temperature.
    • Whole blood, serum, plasma, DNA, RNA, and urine are stored at -80◦.
    • PBMCs are stored in an LN2 tank.
  • There are biospecimen samples from 1,721 participants. These samples include
    • 107 C9orf72 participants.
    • 3 cases with mutations in SOD1.

Number of participants that donated Premortem Samples by Type*

Postmortem
Sample Types (aliquot size) Participants (N =1,721) Aliquots (N =85,372)
DNA (2µg) 1,583 27,114**
RNA (2µg) 1,254 10,193
Plasma (.5ml) 1,432 9,040
Serum (.5 ml) 1,420 7,863
Whole Blood – metals free (1.8 ml) 1,308 3,014
Red Blood Cells (1.0 ml) 1,434 4,427
Buffy Coat (1.0 ml) 323 332
PBMCs1 360 7,135
Urine (1.8 ml) 1,062 14,934**
Urine with preservative (4.5 ml) 687 690
Hair 157 241
Nails 268 268

1 PBMCs – Peripheral blood mononuclear cells
* Updated as of 10/31/24
**May include the stock aliquots and unprocessed samples.

Note: Some collections may pause, discontinue, or resume based on needs assessment and specimen inventory analysis

Postmortem

  • The National ALS Biorepository collects bone, brain tissue, CSF, human primary cells, muscle, and spinal cord postmortem.
  • Several hundred individual samples are frozen and fixed from each donation.
  • All postmortem tissues are processed using standard procedures.
    • Brain and spinal cord are stored frozen and fixed.
    • Bone is stored fixed.
    • Muscle is stored in paraffin blocks.
    • CSF is stored frozen.
    • Fibroblasts are stored in an LN2 tank.
  • The 52 donations include:
    • 6 C9orf72
    • No cases with mutations in SOD1.
    • There are 47 confirmed ALS cases.
    • There are two not ALS and one inconclusive case.
    • There is one case pending processing.

Number of participants that donated Postmortem Samples by Type*

Number of participants that donated Postmortem Samples by Type
Sample Type Participants (N =52)
Fixed brain regions 52
Fixed spinal cord regions 51
Fixed muscle 50
Frozen brain regions 51
Frozen spinal cord regions 51
Frozen Cerebrospinal Fluid (CSF) 45
Frozen muscle 29
Bone 52
Fibroblasts 29

* Updated as of 10/31/24

Note: Some collections may pause, discontinue, or resume based on needs assessment and specimen inventory analysis

Contact‎

Contact a member of the National ALS Biorepository Team at ALSBioresearch@mcking.com for more information
Print
Content Source:
Agency for Toxic Substances and Disease Registry