Analysis of Human ALS Tissues and Registry of ALS Patients

NCT05067179 | Recruiting

• 1 other identifier: 2013-0748
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Amyotrophic Lateral Sclerosis (ALS), often referred to as Lou Gehrig's Disease, is a progressive, terminal condition of muscle weakness that is associated with degeneration of neurons in the spinal cord and brain. This devastating disorder afflicts people in the prime of their lives. At the present time, there are no cures for this disorder, and current treatments are marginal at best. Despite years of intensive research, a fundamental understanding of this disease is still lacking. There is a need to identify both reliable markers of disease progression and effective treatments. The goal of this research is to bring a greater understanding of ALS patients closer to the research studies that can lead to new hypotheses and approaches.

Conditions

Amyotrophic Lateral Sclerosis

Keywords

Amyotrophic Lateral Sclerosis (ALS); Lou Gehrig's Disease; Neurodegenerative Diseases; Neuromuscular Diseases; Nervous System Diseases

Outcome Measures

Primary Outcomes (2)

• Imaging biomarkers

  High resolution 3T MRI T1, T2/FLAIR, DWI, SWI, MRS, and MT sequences at the cervical, thoracic, and lumbar spine and brainstem will be used to identify individual and combinatorial (of each sequence) changes to be used as clinical biomarkers of progression in cases with focal disease onset and spread. These will be compared to histologic and genomic changes in rapid postmortem tissues in the same areas. High resolution T1-weighted imaging is preferred for anatomical structure morphometry. The hypothesis is that spinal cord cross-sectional area decreases over time may be a sensitive MRI parameter to detect progression and respiratory distress. The aim is to develop a highly sensitive and specific, non-invasive measure of ALS progression in the spinal cord using a multi-parametric measurement scheme. Image sequences will be attained and a combinatorial statistical analysis performed to find the best biomarker of progression that could differ regardless of upper motor neuron involvement.

  Within 6 months of participant enrollment

• Molecular biomarkers

  Tissue analyses will be performed to identify differentially expressed genes and histological differences from a rapid postmortem analysis of human ALS tissues from the same spinal cord levels and brainstem imaged on MRI, using an initial genomic analysis (RNAseq). Clinically meaningful biomarkers for disease progression will be validated through bioinformatics and confirmatory studies on human tissues and linked to imaging and clinical findings. Further analysis will look for differences in those with and without upper motor neuron involvement and for those taking or not taking drugs. Tissues will be stored for future studies.

  Within 12 months of participant's passing

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients aged \> 18 years with a diagnosis of ALS being seen at the Neuromuscular Center Clinics, University of Illinois at Chicago

You may qualify if:

• Patients over the age of 18
• Established diagnosis of ALS
• Able and willing to give written informed consent and must authorize release and use of protected health information

You may not qualify if:

• Patients below the age of 18
• No diagnosis of ALS

Sponsors & Collaborators

• University of Illinois at Chicago: lead
• Tanabe Pharma America, Inc.: collaborator

Study Sites (1)

University of Illinois at Chicago

Chicago, Illinois, 60612, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Tissue from different body regions including brain, spinal cord, nerve and muscle.

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Neurodegenerative Diseases; Neuromuscular Diseases; Nervous System Diseases

Condition Hierarchy (Ancestors)

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

Study Officials

• Jeffrey Loeb, MD

  University of Illinois at Chicago

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ayo Fasawe

CONTACT

312-413-7908; afasawe@ilstu.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Neurology and Rehabilitation Department Chair

Study Record Dates

• First Submitted: September 7, 2021
• First Posted: October 5, 2021
• Study Start: September 1, 2020
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030
• Last Updated: September 22, 2025

Record last verified: 2025-05

Locations

US (1)