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dbGaP phs000831 Sporadic Amyotrophic Lateral Sclerosis (ALS): Sequencing Study - pht004904.v1.p1

- 2024-03-09 - 5 Formulär, 1 Item-grupp, 3 Dataelement, 1 Språk
Item-grupp: pht004904
Principal Investigator: Richard K. Wilson, Ph.D, The Genome Institute, Washington University School of Medicine, St. Louis, MO, USA MeSH: Amyotrophic Lateral Sclerosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000831 Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that affects the nerves in the brain and spinal cord, leading to muscle weakening and eventual paralysis and death. Ten percent of ALS cases are thought to be familial while the majority of cases are sporadic and the causative factors unknown. Dr. Roger Pamphlett of the University of Sydney has collected a unique cohort of consented trios where the child has ALS but the parents are unaffected. Since the age of onset is so late, it is very difficult to obtain this kind of trio. We have performed whole exome sequencing on these trios to identify *de novo* and recessive germline variants associated with sporadic ALS. In addition, Dr. Pamphlett has assembled a collection of consented discordant monozygotic twins, where one twin has ALS and the other is unaffected. We performed whole genome sequencing on these twin pairs to identify postzygotic variants that may contribute to sporadic ALS susceptibility. Finally, we have the opportunity to compare the sequence and gene expression in affected and unaffected tissues from blood, brain and/or spinal cord samples from consented ALS patients to look for somatic mutations or gene expression changes that may further our understanding of the disease.

pht004905.v1.p1

1 Item-grupp 6 Dataelement

pht004906.v1.p1

1 Item-grupp 3 Dataelement

pht004908.v1.p1

1 Item-grupp 3 Dataelement

pht004907.v1.p1

1 Item-grupp 2 Dataelement

dbGaP phs001231 NeuroLINCS - Eligibility

- 2023-05-14 - 5 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Leslie Thompson, PhD, University of California, Irvine, CA, USA MeSH: Amyotrophic Lateral Sclerosis,Muscular Atrophy, Spinal,Spinal Muscular Atrophies of Childhood https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001231 The NeuroLINCS Center is part of the NIH Common Fund's Library of Integrated Network-based Cellular Signatures (LINCS) program, which aims to characterize how a variety of human cells, tissues and the entire organism respond to perturbations by drugs and other molecular factors. As Part of the LINCS program, the NeuroLINCS study concentrates on human brain cells, which are far less understood than other cells in the body. Our initial focus is to produce diseased motor neurons from patients by utilizing high-quality induced pluripotent stem cell (iPSC) lines from Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA) patients in addition to unaffected normal healthy controls. Using state-of-the-art OMICS methods (genomics, epigenomics, transcriptomics, and proteomics), we intend to create a wealth of cellular data that is patient-specific in the context of their baseline genetic perturbations and in the presence of other genetic and environmental perturbagens (e.g. endoplasmic reticulum stress). The primary data will be used to build cell signatures that convey the key features that distinguish the state of a cell and determine its behavior. Ultimately, the analysis of these datasets will lead to the identification of a network of unique signatures relevant to each of these motor neuron diseases. The datasets represented in this study are generated from assays interrogating RNA expression (RNA-seq), chromatin accessibility (ATAC-seq) and whole genome sequencing.

pht006179.v1.p1

1 Item-grupp 5 Dataelement

pht006180.v2.p1

1 Item-grupp 5 Dataelement

pht006181.v2.p1

1 Item-grupp 9 Dataelement

pht006182.v2.p1

1 Item-grupp 18 Dataelement

dbGaP phs000747 Whole Exome and Transcriptome Sequencing in Sporadic ALS - Eligibility

- 2022-12-10 - 5 Formulär, 1 Item-grupp, 2 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Graziano Pesole, Prof, IBIOM-CNR and University of Bari, Bari, Italy MeSH: Amyotrophic Lateral Sclerosis,Motor Neuron Disease,Neurodegenerative Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000747 Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a fatal and devastating neurodegenerative disorder that causes the progressive death of upper and lower motor neurons. Although many efforts have been done to elucidate molecular factors involved in the onset and progression of the disorder, the causes of ALS are yet unknown and undefined. Transcriptome studies, based mostly on microarrays, have revealed multiple perturbations of the motor neuron function, supporting the current idea that several cellular events contribute to the pathobiology of the disease, including mitochondrial dysfunction, enhanced apoptosis, glutamate-mediated excitotoxicity, free radical injury, protein misfolding, abnormal calcium metabolism and altered axonal transport. In the present study, we have deeply sequenced the whole transcriptome of ventral horns of the human lumbar spinal cord from matched control and ALS post-mortem donors. Whole exome sequencing from the same donors has also been performed to exclude known genetic variants associated to the familiar form of ALS. In addition, to characterize the ALS transcriptome we have sequenced the RNA fraction at low molecular weight in the same tissues and individuals. Genomic and transcriptomic reads have been generated using the Illumina HiSeq2000 sequencer.

pht003843.v2.p1

1 Item-grupp 3 Dataelement

pht003844.v2.p1

1 Item-grupp 3 Dataelement

pht003845.v2.p1

1 Item-grupp 6 Dataelement

pht003846.v2.p1

1 Item-grupp 7 Dataelement

DELCODE: DZNE – Longitudinal Cognitive Impairment and Dementia Study - Diagnosis criteria Amyotrophic lateral sclerosis (ALS) (Diagnosekriterien Amyotrophe Lateralsklerose (ALS))

- 2021-09-20 - 1 Formulär, 12 Item-grupper, 34 Dataelement, 1 Språk
Item-grupper: Administrative Data, Amyotrophic lateral sclerosis (ALS), Diagnostic criteria and motor subtypes, classical ALS, ALS exclusion criteria, Diagnosis facilitation, ALS occurrence, ALS (not impaired) without cognitive impairment, ALS (cognitive impaired), ALS (behaviourally impaired), ALS (cognitively and behaviourally impaired), ALS‐FTD, ALS (without cognitive impairment, genetic risk for FTD)
DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out." For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This document contains the Diagnosis criteria Amyotrophic lateral sclerosis (ALS) form. It has to be filled in if an ALS is diagnosed. Note: If there is a motor neuron disease, fill in the motor neuron disease assessment!

NINDS CDE [Medical History][Amyotrophic Lateral Sclerosis] - General Health History

- 2016-05-13 - 1 Formulär, 1 Item-grupp, 91 Dataelement, 1 Språk
Item-grupp: Medical history
NINDS Common Data Elements [Participant/Subject History and Family History] [Amyotrophic Lateral Sclerosis] Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Myocardial Oxygen Consumption, Gas Exchange ,Nocturnal Oximetry and pulmonary function Amyotrophic Lateral Sclerosis] - Myocardial Oxygen Consumption, Gas Exchange ,Nocturnal Oximetry and pulmonary function

- 2016-04-18 - 1 Formulär, 4 Item-grupper, 63 Dataelement, 1 Språk
Item-grupper: Myocardial Oxygen Consumption, Gas Exchange, Nocturnal Oximetry, Pulmonary function
NINDS Common Data Elements (Myocardial Oxygen Consumption, Gas Exchange ,Nocturnal Oximetry and pulmonary function Amyotrophic Lateral Sclerosis) Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Grip Strength Amyotrophic Lateral Sclerosis - Grip Strength

- 2016-04-18 - 1 Formulär, 3 Item-grupper, 100 Dataelement, 1 Språk
Item-grupper: Grip Strength, Grip Strength Fatigue, Hand Held Dynamometry
NINDS Common Data Elements (Grip Strength Amyotrophic Lateral Sclerosis) Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Clinical Milestones and Events Amyotrophic Lateral Sclerosis - Clinical Milestones and Events

- 2016-04-15 - 1 Formulär, 3 Item-grupper, 21 Dataelement, 1 Språk
Item-grupper: Clinical Milestones and Events Data Collection Table, Clinical Events and Falls Data Collection Grid, Clinical Events Cramps Data Collection Grid
NINDS Common Data Elements (Clinical milestones and events Amyotrophic Lateral Sclerosis) Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Prior and Concomitant Medications Amyotrophic Lateral Sclerosis - Prior and Concomitant Medications

- 2016-04-15 - 1 Formulär, 1 Item-grupp, 14 Dataelement, 1 Språk
Item-grupp: Prior and Concomitant Medications
NINDS Common Data Elements [Magnetic Resonance Imaging][Amyotrophic Lateral Sclerosis] Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Electrophysiology Amyotrophic Lateral Sclerosis - Electrophysiology

- 2016-04-15 - 1 Formulär, 9 Item-grupper, 152 Dataelement, 1 Språk
Item-grupper: Core Table EMG/NCS, Cranial Supplemental Table for EMG, Cervical Supplemental Table for EMG, Thoracic Supplemental Table for EMG, Lumbosacral Supplemental Table for EMG, Core Table for MUNE, Supplemental Table for MUNE, Core Table for Transcranial Magnetic Stimulation, Core Table for Electrical Impedance Myography
NINDS Common Data Elements (Electrophysiology Amyotrophic Lateral Sclerosis) Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Magnetic Resonance Imaging Amyotrophic Lateral Sclerosis - Magnetic Resonance Imaging

- 2016-04-14 - 1 Formulär, 5 Item-grupper, 319 Dataelement, 1 Språk
Item-grupper: Brain Perfusion Magnetic Resonance Imaging, Diffusion Tensor Imaging, Functional Magnetic Resonance Imaging, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy
NINDS Common Data Elements (Magnetic Resonance Imaging Amyotrophic Lateral Sclerosis) Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Tissue Based Marker Amyotrophic Lateral Sclerosis - Tissue Based Marker

- 2016-04-05 - 1 Formulär, 1 Item-grupp, 9 Dataelement, 1 Språk
Item-grupp: Tissue Based Marker
NINDS Common Data Elements (Tissue Based Marker Amyotrophic Lateral Sclerosis) Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

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