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.

Disease:

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

Study Type:

Observational Study

Study Category:

Neals Affiliated, Diseases, Study Type, Study Status, Phase, Gender

Study Status:

Active, currently recruiting

Phase:

Not Applicable

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

Matthew Harms, MD, Columbia University

Clinicaltrials.gov ID (11 digit #):

NCT02795897

Neals Affiliated?

Yes

Coordinating Center Contact Information

Columbia University
ALS Center Research Coordinator / .(JavaScript must be enabled to view this email address) / 212-305-2202
.(JavaScript must be enabled to view this email address) 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

Participant Duration:

Estimated Enrollment:

1500

Estimated Study Start Date:

05/31/2016

Estimated Study Completion Date:

05/31/2019

Posting Last Modified Date:

06/27/2017

Date Study Added to alsconsortium.org:

06/21/2016
  • Eligibility Criteria

    Gender:

    Female, Male

    Minimum Age:

    18

    Maximum Age:

    80

    Time since Symptom Onset:

    Time since Diagnosis:

    Can participants use Riluzole?


    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)
    -Pregnancy.
    -Known Human Immunodeficiency Virus (HIV) , chronic Hepatitis B, or Hepatitis C (because cells will be frozen down for future cell line generation).

  • Site Contact Information

    Cedar Sinai Medical Center
    Peggy Allred / .(JavaScript must be enabled to view this email address) / 424-315-2694
    Los Angeles, California 90048
    United States

    Columbia University
    ALS Center Research Coordinator / .(JavaScript must be enabled to view this email address) / 212-305-2202
    New York, New York 10032
    United States

    Duke ALS Clinic
    932 Morreene Road
    Durham, North Carolina 27705
    United States

    Houston Methodist Neurological Institute
    Luis Lay / .(JavaScript must be enabled to view this email address) / 713-441-3057
    Houston, Texas 77030
    United States

    Penn State College of Medicine
    Jennifer Crossen / .(JavaScript must be enabled to view this email address) / 717-531-0003 ext 280842
    Hershey, Pennsylvania 17033
    United States

    Univeristy of Michigan
    Blake Swihart / .(JavaScript must be enabled to view this email address) / 734-763-8284
    Ann Arbor, Michigan 48109
    United States

    University of Minnesota
    Valerie Ferment / .(JavaScript must be enabled to view this email address) / 612-301-1535
    Minneapolis, Minnesota 55455
    United States

    University of Utah
    Andy Rivera / .(JavaScript must be enabled to view this email address) / 801-581-5522
    Salt Lake City, Utah 84112
    United States

    University of Washington
    Susan Strom / .(JavaScript must be enabled to view this email address) / 206-685-2028
    Seattle, Washington 98195
    United States

    Washington University
    .(JavaScript must be enabled to view this email address) / 314-362-6159
    St. Louis, Missouri 63110
    United States

    The University of Edinburgh
    Siddharthan Chandran, MD / .(JavaScript must be enabled to view this email address) / 44-0-131-465-9519
    Edinburgh,
    United Kingdom