Studies in Amyotrophic Lateral Sclerosis (ALS) and Other Neurodegenerative Motor Neuron Disorders

NCT05474235 | Recruiting

• 2 other identifiers: 07-0057115P01NS084974
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to collect, from patients with sporadic and familial ALS and their family members, clinical data and blood samples for extraction of DNA, RNA, preparation of lymphocytes, plasma and serum to establish a repository for future investigations of genetic contributions to ALS pathogenesis. Blood samples for DNA extraction also would be collected from control subjects with no personal or family history of ALS phenotypes.

Conditions

Amyotrophic Lateral Sclerosis

Outcome Measures

Primary Outcomes (1)

• Blood Collection

  Total number of blood samples collected

  50 years

Study Arms (3)

ALS or Suspected ALS Patient

Subjects with clinical diagnosis of possible, laboratory-supported probable, probable or definite, ALS or diagnosis of a neurodegenerative disorder with evidence of ALS plus extramotor features or a blood relative (first, second or third degree) with history of ALS or neurodegenerative disorder with evidence of ALS plus extramotor features.

Blood Relative of ALS Patient

Subjects with family history (first, second or third degree blood relative) of ALS or other motor neuron disease.

Healthy Control

Subjects with no personal or family history (first, second or third degree blood relative) of ALS or other motor neuron disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Eligible subjects with ALS or suspected ALS or family history of ALS will be identified from patients seen in the Department of Neurology at Mayo Clinic Jacksonville. Inclusion criteria include standardized diagnostic criteria for ALS as used in ALS therapeutic trials and patients with clinically suspected ALS.

You may qualify if:

• ALS or Suspected ALS Patient
• 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 neurodegenerative disorder with evidence of ALS plus extramotor features; OR
• Blood relative (first, second or third degree) with history of ALS or neurodegenerative disorder with evidence of ALS plus extramotor features; OR:
• A clinical suspicion or referral for ALS;
• \> 18 years of age;
• Willing and able to give signed informed consent or assent that has been approved by the Institutional Review Board (IRB).
• Blood Relative of ALS Patient
• Family history (first, second or third degree blood relative) of ALS or other motor neuron disease;
• \> 18 years of age;
• Willing and able to give signed informed consent that has been approved by the Institutional Review Board (IRB).
• Healthy Control
• No personal or family history (first, second or third degree blood relative) of ALS or other motor neuron disease;
• \> 18 years of age;
• No personal history of other neurodegenerative disease (i.e., Alzheimer disease, Parkinson disease);
• Willing and able to give signed informed consent that has been approved by the Institutional Review Board (IRB).

You may not qualify if:

• ALS or Suspected Patient • Limited mental capacity rendering the subject unable to provide written informed consent or assent or comply with standard phlebotomy procedures.
• Blood Relative of ALS Patient
• Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures.
• Healthy Control Subject
• Personal or family history of dementia or other neurodegenerative disease (Parkinson disease, Alzheimer disease, etc.);
• Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures.

Sponsors & Collaborators

• Mayo Clinic: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Mayo Clinic Florida

Jacksonville, Florida, 32224, United States

RECRUITING

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Bjorn Oskarsson, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: July 14, 2022
• First Posted: July 26, 2022
• Study Start: December 1, 2007
• Primary Completion (Estimated): December 1, 2038
• Study Completion (Estimated): December 1, 2038
• Last Updated: August 19, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)