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Genomic Translation for Amyotrophic Lateral Sclerosis Care (GTAC)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02795897
Recruitment Status : Active, not recruiting
First Posted : June 10, 2016
Last Update Posted : July 17, 2020
Sponsor:
Collaborators:
ALS Association
Biogen
Information provided by (Responsible Party):
Columbia University

Brief Summary:
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.

Condition or disease
ALS

Detailed 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.

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Study Type : Observational
Estimated Enrollment : 1500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genomic Translation for Amyotrophic Lateral Sclerosis Care
Actual Study Start Date : June 8, 2016
Estimated Primary Completion Date : September 2020
Estimated Study Completion Date : November 2021





Primary Outcome Measures :
  1. Correlation of DNA genotype with ALS phenotypes [ Time Frame: 36 months ]
    Because subjects are followed over their entire disease course and undergo whole genome sequencing of their DNA, this project will study the distinct features (progression and particular symptoms) of subjects with and without mutations in already known ALS genes.

  2. Correlation of gene expression in blood with ALS phenotypes [ Time Frame: 36 months ]
    Because subjects are followed over their entire disease course and undergo gene expression profiling on their blood sample, this project will study the distinct features (progression and particular symptoms) of subjects with different types of gene expression profiles.


Biospecimen Retention:   Samples With DNA
DNA, RNA and Peripheral blood mononuclear cells (PBMCs)


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with ALS (meeting El Escorial criteria for definite, probable or possible ALS), or primary lateral sclerosis or progressive bulbar/muscular atrophy.
Criteria

Inclusion Criteria:

Study participants meeting all of the following criteria will be eligible for enrollment in GTAC:

  1. Men or women of any race or ethnicity aged 18 or older
  2. 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.
  3. 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).
  4. Willing to return to clinic site (or another participating center) for follow-up care.

Exclusion Criteria:

Study participants meeting any of the following criteria during screening evaluation will be excluded from enrolling in GTAC:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02795897


Locations
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United States, California
Cedar Sinai Medical Center
Los Angeles, California, United States, 90048
United States, Colorado
University of Colorado School of Medicine
Aurora, Colorado, United States, 80045
United States, Michigan
Univeristy of Michigan
Ann Arbor, Michigan, United States, 48104
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, Missouri
Washington University
Saint Louis, Missouri, United States, 63110
United States, New York
Columbia University
New York, New York, United States, 10032
United States, North Carolina
Duke University
Durham, North Carolina, United States, 27705
United States, Oregon
Oregon Health & Sciences University
Portland, Oregon, United States, 97239
United States, Pennsylvania
Penn State College of Medicine
Hershey, Pennsylvania, United States, 17033
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, United States, 15213
United States, Texas
Houston Methodist Neurological Institute
Houston, Texas, United States, 77030
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84112
United States, Washington
University of Washington
Seattle, Washington, United States, 98195
United Kingdom
The University of Edinburgh
Edinburgh, United Kingdom
Sponsors and Collaborators
Columbia University
ALS Association
Biogen
Investigators
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Principal Investigator: Matthew Harms, MD Columbia University
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Responsible Party: Columbia University
ClinicalTrials.gov Identifier: NCT02795897    
Other Study ID Numbers: AAAQ7026
First Posted: June 10, 2016    Key Record Dates
Last Update Posted: July 17, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: The investigators intend to share DNA, sequencing data, and phenotypic data broadly. Participants will be consented for sharing of GTAC data and samples with the Northeast ALS Consortium (NEALS) repository, with others carrying out ALS/MND research (including other consortia), for biomedical research in general (including use as controls and use by for-profit companies), and with Biogen Idec. Additionally, GTAC has plans to share coded genomic and clinical data with Database of Genotypes and Phenotypes (dbGaP) and a ALS/MND consortium for genomic discovery (ASLGEN). This includes sharing of genetic and phenotypic data with Biogen Idec, a pharmaceutical company that is partnering with GTAC to fund the sequencing of samples.
Time Frame: At the end of the study.
Access Criteria: The investigators intend to share DNA, sequencing data, and phenotypic data with the NEALS repository and Biogen Idec. Coded genomic and clinical data will be shared with dbGaP and ASLGEN.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Columbia University:
genetics
genomics
amyotrophic lateral sclerosis (ALS)
primary lateral sclerosis (PLS)
progressive muscular atrophy (PMA)
motor neuron disease
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Sclerosis
Pathologic Processes
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases