Last updated on October 2018

Genomic Translation for Amyotrophic Lateral Sclerosis Care

Brief description of study

The purpose of this study is to look for abnormal genes and gene expression profiles that help determine why a person develops amyotrophic lateral sclerosis (ALS) and related motor neuron diseases (MND) and why their symptoms present and progress with a particular pattern.

Detailed Study Description

In all patients, ALS/MND is caused by the progressive death of motor neurons. However, every patient is affected differently. Some develop symptoms in their 80's while others get sick in adolescence. Swallowing/speech are affected first in some patients, but most have weakness in their hands or feet at onset. Some individuals show very rapid progression, even as others live for decades. Finally, some patients have loss of mainly motor neurons in the brain (as in primary lateral sclerosis), while others lose mainly lower motor neurons in the spinal cord and brain stem (as in progressive muscular atrophy). Research has uncovered a few genetic factors that contribute to the variability of ALS/MND. For example, mutations in the superoxide dismutase 1 (SOD1) gene makes onset in the legs more likely and decreases the chance of developing dementia. Conversely, having a mutated C9ORF72 gene makes dementia much more likely. Uncovering additional factors causing ALS variability is an important research priority and is likely to provide clues about how to better diagnose and treat the disease.

This study is called "Genomic Translation for ALS Care" (GTAC). The investigators will analyze the genome and gene expression patterns of people with ALS/MND and carry out research on that data, finding insights that the investigators hope will translate into better care for ALS/MND patients.

Clinical Study Identifier: NCT02795897

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Robert Baloh, MD

Cedar Sinai Medical Center
Los Angeles, CA United States
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Stephen Goutman, MD, MS

Univeristy of Michigan
Ann Arbor, MI United States
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George Manousakis, MD

University of Minnesota
Minneapolis, MN United States
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Timothy Miller, MD, PhD

Washington University
Saint Louis, MO United States
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Matthew Harms, MD

Columbia University
New York, NY United States
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Zachary Simmons, MD

Penn State College of Medicine
Hershey, PA United States
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Stanley Appel, MD

Houston Methodist Neurological Institute
Houston, TX United States
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Summer Gibson, MD

University of Utah
Salt Lake City, UT United States
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Leo Wang, MD

University of Washington
Seattle, WA United States
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Siddharthan Chandran, MD

The University of Edinburgh
Edinburgh, United Kingdom
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Richard Bedlack, MD, PhD

Duke University
Durham, NC United States
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Chafic Karam, MD

Oregon Health & Sciences University
Portland, OR United States
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David Lacomis, MD

University of Pittsburgh Medical Center
Pittsburgh, PA United States
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Recruitment Status: Open

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