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

NCT01948102 | Completed DMC

• 1 other identifier: CHS-Neurology_ALS_TDI_PEG
• Study Type: observational
• Target: 132
• Locations: 1 country
• Sites: 1

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.

Conditions

Amyotrophic Lateral Sclerosis

Keywords

Amyotrophic Lateral Sclerosis; motor neuron disease; biological markers; biomarkers

Outcome Measures

Primary Outcomes (2)

• Abundance levels of the known messenger RNA transcriptome of skin and adipose tissue samples (measured by gene expression profiling)

  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)

  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.

Study Arms (2)

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

Eligibility Criteria

• Age: 19 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• children 18 years old and younger

Sponsors & Collaborators

• Wake Forest University Health Sciences: lead
• ALS Therapy Development Institute: collaborator

Study Sites (1)

Carolinas Neuromuscular/ALS-MDA care Center

Charlotte, North Carolina, 28207, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

skin and adipose tissue

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Motor Neuron Disease

Condition Hierarchy (Ancestors)

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

Study Officials

• Benjamin R Brooks, MD

  Carolinas Neuromuscular/ALS-MDA Care Center

  PRINCIPAL INVESTIGATOR

• Thomas Pacicco, MD

  Gastroenterology

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2013
• First Posted: September 23, 2013
• Study Start: August 20, 2008
• Primary Completion: August 6, 2014
• Study Completion: April 4, 2017
• Last Updated: April 26, 2022

Record last verified: 2019-12

Locations

US (1)