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

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ClinicalTrials.gov Identifier: NCT01948102
Recruitment Status : Completed
First Posted : September 23, 2013
Last Update Posted : April 26, 2022
Sponsor:
Collaborator:
ALS Therapy Development Institute
Information provided by (Responsible Party):
Wake Forest University Health Sciences

Study Description
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Brief Summary:
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.

Condition or disease
Amyotrophic Lateral Sclerosis

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 Design
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Study Type : Observational
Actual Enrollment : 132 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Identification of Diagnostic and Prognostic Biomarkers From Amyotrophic Lateral Sclerosis (ALS) Skin and Adipose Samples
Actual Study Start Date : August 20, 2008
Actual Primary Completion Date : August 6, 2014
Actual Study Completion Date : April 4, 2017

Resource links provided by the National Library of Medicine


Groups and Cohorts
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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


Outcome Measures
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Primary Outcome Measures :
  1. 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.

  2. 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.


Biospecimen Retention:   Samples With DNA
skin and adipose tissue

Eligibility Criteria
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Ages Eligible for Study:   19 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients at the Carolinas Neuromuscular/ALS-MDA Center and patients at Carolinas Medical Center.
Criteria

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
Contacts and Locations
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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): NCT01948102


Locations
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United States, North Carolina
Carolinas Neuromuscular/ALS-MDA care Center
Charlotte, North Carolina, United States, 28207
Sponsors and Collaborators
Wake Forest University Health Sciences
ALS Therapy Development Institute
Investigators
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Principal Investigator: Benjamin R Brooks, MD Carolinas Neuromuscular/ALS-MDA Care Center
Principal Investigator: Thomas Pacicco, MD Gastroenterology
More Information
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Responsible Party: Wake Forest University Health Sciences
ClinicalTrials.gov Identifier: NCT01948102    
Other Study ID Numbers: CHS-Neurology_ALS_TDI_PEG
First Posted: September 23, 2013    Key Record Dates
Last Update Posted: April 26, 2022
Last Verified: December 2019
Keywords provided by Wake Forest University Health Sciences:
Amyotrophic Lateral Sclerosis
motor neuron disease
biological markers
biomarkers
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Sclerosis
Pathologic Processes
Neurodegenerative Diseases
Nervous System Diseases
 Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases