Identification of Diagnostic And Prognostic Biomarkers From Amyotrophic Lateral Sclerosis (ALS) Skin and Adipose Samples (ALS-TDI PEG)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01948102|
Recruitment Status : Completed
First Posted : September 23, 2013
Last Update Posted : April 26, 2022
|Condition or disease|
|Amyotrophic Lateral Sclerosis|
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|
|Actual Enrollment :||132 participants|
|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|
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
- 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.
- 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
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
|United States, North Carolina|
|Carolinas Neuromuscular/ALS-MDA care Center|
|Charlotte, North Carolina, United States, 28207|
|Principal Investigator:||Benjamin R Brooks, MD||Carolinas Neuromuscular/ALS-MDA Care Center|
|Principal Investigator:||Thomas Pacicco, MD||Gastroenterology|