Collecting blood and CSF samples to study ALS and related disorders

Biospecimen Biorepository for the Study of ALS, ALS-FTD and Similar Neurodegenerative Disorders

This study is collecting blood and spinal fluid samples from people with ALS and similar disorders to see if they can find helpful markers for diagnosing and tracking the disease.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Mayo Clinic (other)
• Locations: 1 site (Jacksonville, Florida)
• Trial ID: NCT05116943 on ClinicalTrials.gov

What this trial studies

This observational study aims to gather cerebrospinal fluid (CSF) and blood samples from patients diagnosed with Amyotrophic Lateral Sclerosis (ALS), ALS-Frontotemporal Dementia (ALS-FTD), and similar neurodegenerative disorders. The collected samples will be used in future research to identify potential biomarkers that could aid in the diagnosis and monitoring of ALS. By analyzing these biomarkers over time, researchers hope to understand how they change and their relevance in managing the disease. The study also includes family members of affected individuals to broaden the understanding of ALS-related biomarkers.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with ALS, ALS-FTD, or similar neurodegenerative disorders, as well as their family members.

Not a fit: Patients with a personal history of ALS, ALS-FTD, or other motor neuron diseases may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnostic tools and monitoring methods for ALS patients.

How similar studies have performed: Other studies have shown promise in identifying biomarkers for neurodegenerative diseases, making this approach potentially beneficial.

Eligibility criteria

Inclusion Criteria - Patient with ALS, ALS-FTD or Similar Neurodegenerative Disease:

* Clinical diagnosis of possible, laboratory-supported probable, probable or definite ALS according to modified eL Escorial criteria, suspected ALS according to original el Escorial criteria, or diagnosis of a similar neurodegenerative disorder.
* Willing to provide consent, or assent, if physically unable to consent owing to disease-related muscle weakness.

Inclusion Criteria - Spouse/Domestic Partner of Patients with ALS/ALS-FTD and Similar Neurodegenerative Disorder or Subject with Family History of ALS, ALS-FTD or Similar Neurodegenerative Disease:

* No personal history of ALS, ALS-FTD or other motor neuron disease.
* Subjects with family history of ALS, ALS-FTD the affected family member needs to be a first, second, or third degree blood relative.
* Willing to provide consent.

Exclusion Criteria - Subject with ALS/ALS-FTD or Similar Neurodegenerative Disease:

* History of medical disorder that leaves in question whether neurological signs and symptoms potentially related to a neurodegenerative disease may be caused by another unrelated disorder.
* Limited mental capacity rendering the subject unable to comply with lumbar puncture or standard phlebotomy procedures.
* For lumbar puncture, an increased risk of bleeding complications or allergy to local anesthetic administered or skin antiseptic used for lumbar puncture.

Exclusion Criteria - Spouse/Domestic Partner of Patients with ALS/ALS-FTD and Similar Neurodegenerative Disorder or Subject with Family History of ALS, ALS-FTD or Similar Neurodegenerative Disease:

* Limited mental capacity rendering the subject unable to comply with lumbar puncture or standard phlebotomy procedures.
* For lumbar puncture, an increased risk of bleeding complications or allergy to local anesthetic administered or skin antiseptic used for lumbar puncture.

Where this trial is running

Jacksonville, Florida

• Mayo Clinic in Florida — Jacksonville, Florida, United States (RECRUITING)

Study contacts

• Principal investigator: Bjorn Oskarsson, MD — Mayo Clinic

Conditions: Amyotrophic Lateral Sclerosis