Genomic Translation for Amyotrophic Lateral Sclerosis Care

Study Purpose:

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.

Study Status:

Not recruiting


Amyotrophic Lateral Sclerosis (ALS) , Familial ALS , Sporadic ALS , Primary Lateral Sclerosis (PLS)

Study Type:


Type of Intervention:


Intervention Name:






Study Chair(s)/Principal Investigator(s):

Matthew Harms, MD, Columbia University ID:


Neals Affiliated?


Coordinating Center Contact Information

Columbia University

ALS Center Research Coordinator / email hidden; JavaScript is required / 212-305-2202

New York, New York, 10032 United States

Full Study Summary:

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.

Study Sponsor:

Columbia University

Estimated Enrollment:


Estimated Study Start Date:

06 / 08 / 2016

Estimated Study Completion Date:

11 / 30 / 2020

Posting Last Modified Date:

07 / 22 / 2020

Date Study Added to

06 / 21 / 2016

Minimum Age:


Maximum Age:


Inclusion Criteria:
-Men or women of any race or ethnicity aged 18 or older
-Diagnosis of familial or sporadic ALS (definite, probable, or possible according to El Escorial Criteria, Appendix 1), or those with primary lateral sclerosis or progressive bulbar/muscular atrophy forms of motor neuron disease. All-comers with ALS/MND should be enrolled without regard to familial vs sporadic or gene mutation status (i.e. participants with known gene mutations should still be enrolled), or phenotype.
-Capable of providing informed consent and following study procedures (in the case that a subject lacks the ability to provide informed consent, informed consent will be sought from the subject's surrogate representative).
-Willing to return to clinic site (or another participating center) for follow-up care.

Exclusion Criteria:
-Invasive ventilation (i.e. tracheostomy) in place.
-Non-invasive ventilation dependent (defined as >22 hours per day)
-Known Human Immunodeficiency Virus (HIV) , chronic Hepatitis B, or Hepatitis C (because cells will be frozen down for future cell line generation).

Cedar Sinai Medical Center

Carolyn Prina / 310-423-1713 / email hidden; JavaScript is required

Los Angeles, California 90048
United States

University of Colorado School of Medicine

Kim Klawson-Stone / 303-724-4644 / email hidden; JavaScript is required

Aurora, Colorado 80045
United States

Univeristy of Michigan

Blake Swihart / 734-763-8284 / email hidden; JavaScript is required

Ann Arbor, Michigan 48109
United States

University of Minnesota

Valerie Ferment / 612-301-1535 / email hidden; JavaScript is required

Minneapolis, Minnesota 55455
United States

Washington University

WU Neuromuscular Clinical Studies Line / 314-362-6159 / email hidden; JavaScript is required

St. Louis, Missouri 63110
United States

Columbia University

ALS Center Research Coordinator / 212-305-2202 / email hidden; JavaScript is required

New York, New York 10032
United States

Duke ALS Clinic

Charles Loughlin / 919-668-2836 / email hidden; JavaScript is required

Durham, North Carolina 27705
United States

Oregon Health & Sciences University

Diana Dimitrova / 503-494-7269 / email hidden; JavaScript is required

Portland, Oregon 97239
United States

Penn State College of Medicine

Dodi Schaak / 717-531-0003 ext 280842 / email hidden; JavaScript is required

Hershey, Pennsylvania 17033
United States

University of Pittsburgh Medical Center

Danielle Rowlands / 412-864-2873 / email hidden; JavaScript is required

Pittsburgh, Pennsylvania 15213
United States

Houston Methodist Neurological Institute

Sharon Halton / 713-441-3420 / email hidden; JavaScript is required

Houston, Texas 77030
United States

University of Utah

Teresa Janecki / 801-581-3724 / email hidden; JavaScript is required

Salt Lake City, Utah 84112
United States

University of Washington

Lyndi Hennings / 206-543-0454 / email hidden; JavaScript is required

Seattle, Washington 98195
United States

The University of Edinburgh

Siddharthan Chandran, MD / 44-0-131-465-9519 / email hidden; JavaScript is required

United Kingdom