Identification of Diagnostic And Prognostic Biomarkers From Amyotrophic Lateral Sclerosis (ALS) Skin and Adipose Samples (ALS-TDI PEG)

April 20, 2022 updated by: Wake Forest University Health Sciences

Identification of Diagnostic and Prognostic Biomarkers From Amyotrophic Lateral Sclerosis (ALS) Skin and Adipose Samples

The purpose of the project is to obtain skin and adipose tissue samples from patients with ALS to develop new diagnostic and prognostic markers of the disease. These samples will be obtained when percutaneous endoscopic gastrostomy (PEG) is performed as part of their standard of care. Skin and adipose tissue samples will also be obtained from disease control subjects who require a PEG as part of their standard of care.

Study Overview

Status

Completed

Conditions

Detailed Description

Subjects who are undergoing a percutaneous endoscopic gastrostomy (PEG) tube insertion as part of their standard of care will be asked if a skin and adipose sample may be collected for research during the procedure. After a participant has signed the informed consent, the sub-investigator from the Department of Gastroenterology will collect a skin and adipose sample during the procedure. Individuals with a diagnosis of definite ALS and disease controls (i.e. stroke, head and neck cancer, spinal cord injury, etc.) will be included in this study.

The coded skin and adipose sample will be taken to the Carolinas Neuromuscular/ALS Research Laboratory in the Cannon Research Center for processing. The skin and adipose will be separated from each other and divided into halves. Each half of skin and adipose will be submerged in preservative and either shipped to ALS-TDI or retained at -80°C in the Carolinas Neuromuscular/ALS Research Laboratory. The research staff at the Carolinas Neuromuscular/ALS-MDA Center will be responsible for shipping the sample to the ALS-TDI for either RNA isolation using the Qiagen RNAEasy kit (Qiagen) or for purification of protein. Subsequently, gene expression profiling on Affymetrix Genechips or Mass Spec based proteomics on a Thermo Orbitrap LC-MS/MS instrument will be performed, respectively. The discovery effort (if all participants are working at capacity) should not take more than 12 months.

In addition to the above procedures, a member of the study team will review the medical chart to obtain additional information on the participant's medical and family history. For ALS patients, past ALSFRS-R scores or FVC scores will be provided to the "ALS-TDI Skin and Adipose Biomarker Study" to enhance the usefulness of the information for research.

Samples will not be stored with any patient identifiers. Samples will be retained and continued to be studied as new techniques become available. Data from the study may be published in scientific journals. Publications will not include any patient identifiers.

Study Type

Observational

Enrollment (Actual)

132

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • North Carolina
      • Charlotte, North Carolina, United States, 28207
        • Carolinas Neuromuscular/ALS-MDA care Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

19 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients at the Carolinas Neuromuscular/ALS-MDA Center and patients at Carolinas Medical Center.

Description

Inclusion Criteria:

  • for ALS patients, subjects must be diagnosed with definite ALS according to the El Escorial Criteria (EEC)
  • all subjects must be diagnosed with a condition requiring PEG (percutaneous endoscopic gastrostomy) tube insertion
  • subjects must be older than 18 years of age

Exclusion Criteria:

  • children 18 years old and younger

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
subjects with ALS
subjects with ALS who are undergoing a percutaneous endoscopic gastrostomy
subjects without ALS
subjects without ALS who are undergoing a percutaneous endoscopic gastrostomy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Abundance levels of the known messenger RNA transcriptome of skin and adipose tissue samples (measured by gene expression profiling)
Time Frame: After tissue has been collected from study subjects. Data will be analyzed at 1 year.
Skin and adipose samples will be collected and processed into total RNA. Probes will be synthesized from these total RNAs and hybridized to HgU133ver2.0 Affymetrix genechips. These genechips contain probe sets that measure the abundance levels of the known human transcriptome.
After tissue has been collected from study subjects. Data will be analyzed at 1 year.
Changes in abundance of or post-translational modification of proteins (measured by proteomics)
Time Frame: After tissue has been collected from study subjects. Data will be analyzed at year 1 after primary outcome data has been reviewed and analyzed.
Skin and adipose samples will be collected for down stream proteomics analysis. The 14 most abundant proteins will be removed using commercially available depletion columns (Agilent). Removal of these proteins yields higher resolution and sensitivity in subsequent chromatography steps. Proteins will be separated by 2 and 3 dimensional liquid chromatography followed by MS/MS based peptide quantitation and sequencing on a Thermo Orbitrap.
After tissue has been collected from study subjects. Data will be analyzed at year 1 after primary outcome data has been reviewed and analyzed.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Wake Forest University Health Sciences

Collaborators

ALS Therapy Development Institute

Investigators

  • Principal Investigator: Benjamin R Brooks, MD, Carolinas Neuromuscular/ALS-MDA care Center
  • Principal Investigator: Thomas Pacicco, MD, Gastroenterology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 20, 2008

Primary Completion (Actual)

August 6, 2014

Study Completion (Actual)

April 4, 2017

Study Registration Dates

First Submitted

March 30, 2013

First Submitted That Met QC Criteria

September 18, 2013

First Posted (Estimate)

September 23, 2013

Study Record Updates

Last Update Posted (Actual)

April 26, 2022

Last Update Submitted That Met QC Criteria

April 20, 2022

Last Verified

December 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHS-Neurology_ALS_TDI_PEG

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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