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Analysis of Human ALS Tissues and Registry of ALS Patients

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ClinicalTrials.gov Identifier: NCT05067179
Recruitment Status : Recruiting
First Posted : October 5, 2021
Last Update Posted : November 4, 2022
Mitsubishi Tanabe Pharma America Inc.
Information provided by (Responsible Party):
Jeffrey A Loeb, University of Illinois at Chicago

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.

Condition or disease
Amyotrophic Lateral Sclerosis

Detailed Description:

Patients will be approached during in-person or phone/online appointments and asked their consent to enter information and results from their physical examinations, electrodiagnostic testing, and other testing done as a standard of care and into a database to monitor disease progression and use them for research purposes. Also, the patients will be asked for consent to undergo a MRI scan.

In a second informed consent form, patients will be enrolled to perform a rapid postmortem autopsy and have the tissue banked for research purposes. It is important to keep the consents separate because some patients may not consent to this postmortem study, but would consent to the premortem studies.

The information gained from the premortem studies will be used during the postmortem examination to select tissue for further processing. Tissue from different regions, including brain, spinal cord, nerve and muscle will be processed in parallel for cellular and molecular analyses that include histology, immunostaining, in situ hybridization, protein, RNA, and small molecule analyses.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 40 participants
Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Analysis of Human ALS Tissues and Registry of ALS Patients
Actual Study Start Date : September 1, 2020
Estimated Primary Completion Date : August 30, 2025
Estimated Study Completion Date : August 30, 2025

Primary Outcome Measures :
  1. Imaging biomarkers [ Time Frame: Within 6 months of participant enrollment ]
    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.

  2. Molecular biomarkers [ Time Frame: Within 12 months of participant's passing ]
    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.

Biospecimen Retention:   Samples With DNA
Tissue from different body regions including brain, spinal cord, nerve and muscle.

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Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Inclusion Criteria:

  • 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

Exclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05067179

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Contact: Samreen Ahmed 312-413-1882 sa50@uic.edu

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United States, Illinois
University of Illinois at Chicago Recruiting
Chicago, Illinois, United States, 60612
Contact: Samreen Ahmed    312-413-1882    sa50@uic.edu   
Sub-Investigator: Charles Abrams, MD, PhD         
Sub-Investigator: Diana Mnatsakanova, MD         
Sub-Investigator: Pritikanta Paul, MD         
Sponsors and Collaborators
University of Illinois at Chicago
Mitsubishi Tanabe Pharma America Inc.
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Principal Investigator: Jeffrey Loeb, MD University of Illinois at Chicago
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Responsible Party: Jeffrey A Loeb, Neurology and Rehabilitation Department Chair, University of Illinois at Chicago
ClinicalTrials.gov Identifier: NCT05067179    
Other Study ID Numbers: 2013-0748
097064 ( Other Grant/Funding Number: Mitsubishi Tanabe Pharma America, Inc. )
First Posted: October 5, 2021    Key Record Dates
Last Update Posted: November 4, 2022
Last Verified: November 2022
Keywords provided by Jeffrey A Loeb, University of Illinois at Chicago:
Amyotrophic Lateral Sclerosis (ALS)
Lou Gehrig's Disease
Neurodegenerative Diseases
Neuromuscular Diseases
Nervous System Diseases
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Pathologic Processes
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases