National ALS Biorepository Inventory

Disclaimer

Due to recent changes in government funding and staffing, we are temporarily unable to review biorepository applications or distribute samples from the National ALS Biorepository. This activity is on hold until further notice. Please check back for updates.

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 1,803 participants. These samples include
  • 107 C9orf72 participants.
  • 3 cases with mutations in SOD1.

Number of participants that donated Premortem Samples by Type*

¹ PBMCs – Peripheral blood mononuclear cells
* Updated as of 09/26/25;
**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 frozen and paraffin embedded.
  • 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*

* Updated as of 09/26/25

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