Identification of Diagnostic And Prognostic Biomarkers From Amyotrophic Lateral Sclerosis (ALS) Skin and Adipose Samples (ALS-TDI PEG)
Identification of Diagnostic and Prognostic Biomarkers From Amyotrophic Lateral Sclerosis (ALS) Skin and Adipose Samples
調査の概要
状態
条件
詳細な説明
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.
研究の種類
入学 (実際)
連絡先と場所
研究場所
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North Carolina
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Charlotte、North Carolina、アメリカ、28207
- Carolinas Neuromuscular/ALS-MDA care Center
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参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
説明
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
研究計画
研究はどのように設計されていますか？
デザインの詳細
コホートと介入
グループ/コホート |
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subjects with ALS
subjects with ALS who are undergoing a percutaneous endoscopic gastrostomy
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subjects without ALS
subjects without ALS who are undergoing a percutaneous endoscopic gastrostomy
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この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
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Abundance levels of the known messenger RNA transcriptome of skin and adipose tissue samples (measured by gene expression profiling)
時間枠：After tissue has been collected from study subjects. Data will be analyzed at 1 year.
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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.
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After tissue has been collected from study subjects. Data will be analyzed at 1 year.
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Changes in abundance of or post-translational modification of proteins (measured by proteomics)
時間枠：After tissue has been collected from study subjects. Data will be analyzed at year 1 after primary outcome data has been reviewed and analyzed.
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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.
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After tissue has been collected from study subjects. Data will be analyzed at year 1 after primary outcome data has been reviewed and analyzed.
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協力者と研究者
捜査官
- 主任研究者：Benjamin R Brooks, MD、Carolinas Neuromuscular/ALS-MDA care Center
- 主任研究者：Thomas Pacicco, MD、Gastroenterology
研究記録日
主要日程の研究
研究開始 (実際)
一次修了 (実際)
研究の完了 (実際)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (見積もり)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。