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


  • 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 1,664 participants. These samples include
    • 107 C9orf72 participants.
    • 3 cases with mutations in SOD1.

Number of participants that donated Premortem Samples by Type*

Sample Types (aliquot size) Participants (N =1,664) Aliquots (N =84,413)
DNA (2µg) 1,535 26,849**
RNA (2µg) 1,254 10,193
Plasma (.5ml) 1,385 8,741
Serum (.5 ml) 1,372 7,654
Whole Blood – metals free (1.8 ml) 1,360 3,437
Red Blood Cells (1.0 ml) 1,390 4,343
Buffy Coat (1.0 ml) 275 282
PBMCs1 292 6,404
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 4/30/24;
**May include the stock aliquots and unprocessed samples.



  • 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*

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 CSF1 45
Frozen muscle 29
Bone 52
Fibroblasts 29

1CSF – Cerebrospinal fluid                 * Updated as of 04/30/24

Contact a member of the National ALS Biorepository Team at for more information.