Target ALS Biomarker Study


About this study

The purpose of this study is to generate a biorepository of longitudinal blood (plasma and serum), cerebral spinal fluid (CSF) and urine linked to genetics and longitudinal clinical information that are made available to the research community using a speech recording application.

The objectives of this study are development of longitudinal bio-fluid repository in conjunction with collection of clinical data such as ALSFRS-R and ALS-cognitive behavioral screening (ALS-CBS) assessments, assessment of speech over time by collecting speech from participants during their study clinic visits and at home on a weekly basis, and assessment of vital capacity at home for participants who choose to enroll in the optional spirometer assessments for this study.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria - ALS Participants:

  • Age 18 years or older.
  • Ability to understand the purpose and risks of the study, provide informed consent and comply with trial procedures.
  • Diagnosis of ALS according to revised EEC, including suspected, possible, probable (+/- laboratory supported), and definite.
  • Vital capacity (VC) at least 50% predicted value for gender, height and age at screening.
  • In the opinion of the study physician, able to tolerate study procedures, including lumbar puncture, for the duration of the study.
  • A Score of 2 or more on item one (SPEECH) of the ALSFRS-R scale.
  • Subjects medically able to undergo lumbar puncture (LP) as determined by the investigator (i.e.: no bleeding disorder, allergy to local anesthetics, a skin infection at or near the LP site, or evidence of high intracranial pressure).
  • Access to a smartphone or tablet, and internet access at home.

Inclusion Criteria - Healthy Participants:

  • Age 18 years or older.
  • Capable of providing informed consent and complying with trial procedure.
  • No history of neurological disease, as determined by the investigator.
  • Individuals that harbor known genetic mutations that cause ALS yet are asymptomatic can also be enrolled in the Healthy participant cohort.
  • Access to a smartphone or tablet, and internet access at home.

Exclusion Criteria:

  • Any known or suspected abnormal CSF pressure or intracranial/intraspinal tumors.
  • Use of anticoagulant medication (e.g., warfarin, dalteparin, enoxaparin, rivaroxaban, fondaparinux, dabigatran) that cannot be safely withheld until coagulation parameters have normalized prior to lumbar puncture and for up to a week following the lumbar puncture.
  • Blood dyscrasia, abnormal bleeding diathesis, or the use of dialysis for renal failure.
  • Clinical judgment of the Site Investigator that the participant would be unable to undergo multiple lumbar punctures.
  • Inability to perform at home speech measures using an app on a patient device (phone or iPad).
  • Individuals participating in other clinical research studies will be eligible to participate in this study.  ALS patients on any currently approved therapies (riluzole, edaravone) are eligible to participate and continue their medications throughout this study.

Eligibility last updated 8/24/21. Questions regarding updates should be directed to the study team contact.



Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Jacksonville, Fla.

Mayo Clinic principal investigator

Bjorn Oskarsson, M.D.

Open for enrollment

Contact information:

Jany Paulett C.C.R.C.

More information


Publications are currently not available

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