We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

Genomic Translation for ALS Care (GTAC)

This study is currently recruiting participants.
Verified July 2017 by Matthew Harms, Columbia University
Sponsor:
ClinicalTrials.gov Identifier:
NCT02795897
First Posted: June 10, 2016
Last Update Posted: July 21, 2017
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborators:
ALS Association
Biogen
Information provided by (Responsible Party):
Matthew Harms, Columbia University
  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.

Condition
ALS

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genomic Translation for Amyotrophic Lateral Sclerosis Care

Resource links provided by NLM:


Further study details as provided by Matthew Harms, Columbia University:

Primary Outcome Measures:
  • Correlations 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.

  • Correlations 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)

Estimated Enrollment: 1500
Study Start Date: November 2016
Estimated Study Completion Date: November 2020
Estimated Primary Completion Date: June 2019 (Final data collection date for primary outcome measure)
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.

  Eligibility

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.


Ages Eligible for Study:   18 Years to 80 Years   (Adult, Senior)
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).
  Contacts and Locations
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


Contacts
Contact: ALS Center Research Coordinator 212-305-2202 alscenter@columbia.edu

Locations
United States, California
Cedar Sinai Medical Center Recruiting
Los Angeles, California, United States, 90048
Contact: Peggy Allred    424-315-2694    Peggy.allred@cshs.org   
Principal Investigator: Robert Baloh, MD         
United States, Michigan
Univeristy of Michigan Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Blake Swihart    734-763-8284    blakeswi@umich.edu   
Principal Investigator: Stephen Goutman, MD, MS         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Valerie Ferment    612-301-1535    ferm0016@umn.edu   
Principal Investigator: George Manousakis, MD         
United States, Missouri
Washington University Recruiting
Saint Louis, Missouri, United States, 63110
Contact: WU Neuromuscular Clinical Studies Line    314-362-6159    neuroclinicalstudies@neuro.wustl.edu   
Principal Investigator: Timothy Miller, MD, PhD         
United States, New York
Columbia University Recruiting
New York, New York, United States, 10032
Contact: ALS Center Research Coordinator    212-305-2202    alscenter@columbia.edu   
Principal Investigator: Matthew Harms, MD         
United States, Pennsylvania
Penn State College of Medicine Recruiting
Hershey, Pennsylvania, United States, 17033
Contact: Jennifer Crossen    717-531-0003 ext 280842    jcrossen@hmc.psu.edu   
Principal Investigator: Zachary Simmons, MD         
United States, Texas
Houston Methodist Neurological Institute Recruiting
Houston, Texas, United States, 77030
Contact: Luis Lay    713-441-3057    LFLayJr@HoustonMethodist.org   
Principal Investigator: Stanley Appel, MD         
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84112
Contact: Teresa Janecki    801-581-3724    teresaj@genetics.utah.edu   
Principal Investigator: Summer Gibson, MD         
United States, Washington
University of Washington Recruiting
Seattle, Washington, United States, 98195
Contact: Susan Strom    206-685-2028    rileys@uw.edu   
Principal Investigator: Leo Wang, MD         
United Kingdom
The University of Edinburgh Recruiting
Edinburgh, United Kingdom
Contact: Siddharthan Chandran, MD    44-0-131-465-9519    siddharthan.chandran@ed.ac.uk   
Principal Investigator: Siddharthan Chandran, MD         
Sponsors and Collaborators
Columbia University
ALS Association
Biogen
Investigators
Principal Investigator: Matthew Harms, MD Columbia University
  More Information

Responsible Party: Matthew Harms, Assistant Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT02795897     History of Changes
Other Study ID Numbers: AAAQ7026
First Submitted: June 7, 2016
First Posted: June 10, 2016
Last Update Posted: July 21, 2017
Last Verified: July 2017
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.

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Matthew Harms, Columbia University:
genetics
genomics
amyotrophic lateral sclerosis (ALS)
primary lateral sclerosis (PLS)
progressive muscular atrophy (PMA)
motor neuron disease

Additional relevant MeSH terms:
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases