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

The purpose of this study is to collect CSF and blood samples that can be used in future research studies to identify potential biomarkers in blood and cerebrospinal fluid (CSF) collected in Amyotrophic Lateral Sclerosis (ALS) patients.

Study Overview

• Status: Recruiting
• Conditions: Amyotrophic Lateral Sclerosis

Detailed Description

Biomarkers are non-genetic elements in your blood and CSF that may help diagnose and monitor ALS more easily. There are no readily available sources of longitudinal CSF, plasma or serum samples from people with ALS, ALS-FTD or similar neurodegenerative disorders or their family members for use in the identification of potential ALS biomarkers. Future research will examine potential biomarkers in blood and CSF collected over time to see if they change over time and can be used to diagnose and monitor people with ALS.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

Study Locations

• United States
  • Florida
    • Jacksonville, Florida, United States, 32224
      • Recruiting
      • Mayo Clinic in Florida
      • Contact: Alex Burch, BA; Phone Number: 904-953-2000; Email: burch.alex@mayo.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Subjects with ALS and similar neurodegenerative disorders and their family members will be identified from patients seen in the Department of Neurology at Mayo Clinic Florida on the basis of a diagnosis of ALS or a similar neurodegenerative disorder.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Blood serum collection	Total number of blood serum samples collected	10 years
Blood plasma collection	Total number of blood plasma samples collected	10 years
Cerebrospinal fluid collection	Total number of cerebrospinal fluid samples collected	10 years

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS)
• Investigators: Principal Investigator: Bjorn Oskarsson, MD, Mayo Clinic

Publications and helpful links

Helpful Links

• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start (Actual): August 19, 2013
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030

Study Registration Dates

• First Submitted: November 2, 2021
• First Submitted That Met QC Criteria: November 2, 2021
• First Posted (Actual): November 11, 2021

Study Record Updates

• Last Update Posted (Actual): November 28, 2023
• Last Update Submitted That Met QC Criteria: November 27, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Neurodegenerative Diseases
• Other Study ID Numbers: 13-004314; 5P01NS084974-07 (U.S. NIH Grant/Contract)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No