NCT02795897

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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
254

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jun 2016

Longer than P75 for all trials

Geographic Reach
2 countries

14 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

June 7, 2016

Completed
1 day until next milestone

Study Start

First participant enrolled

June 8, 2016

Completed
2 days until next milestone

First Posted

Study publicly available on registry

June 10, 2016

Completed
5.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 27, 2021

Completed
11 months until next milestone

Study Completion

Last participant's last visit for all outcomes

June 29, 2022

Completed
Last Updated

August 19, 2022

Status Verified

August 1, 2022

Enrollment Period

5.1 years

First QC Date

June 7, 2016

Last Update Submit

August 18, 2022

Conditions

Keywords

geneticsgenomicsamyotrophic lateral sclerosis (ALS)primary lateral sclerosis (PLS)progressive muscular atrophy (PMA)motor neuron disease

Outcome Measures

Primary Outcomes (2)

  • Correlation of DNA genotype with ALS phenotypes

    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.

    36 months

  • Correlation of gene expression in blood with ALS phenotypes

    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.

    36 months

Eligibility Criteria

Age18 Years - 80 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (14)

Cedar Sinai Medical Center

Los Angeles, California, 90048, United States

Location

University of Colorado School of Medicine

Aurora, Colorado, 80045, United States

Location

Univeristy of Michigan

Ann Arbor, Michigan, 48104, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Washington University

St Louis, Missouri, 63110, United States

Location

Columbia University

New York, New York, 10032, United States

Location

Duke University

Durham, North Carolina, 27705, United States

Location

Oregon Health & Sciences University

Portland, Oregon, 97239, United States

Location

Penn State College of Medicine

Hershey, Pennsylvania, 17033, United States

Location

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, 15213, United States

Location

Houston Methodist Neurological Institute

Houston, Texas, 77030, United States

Location

University of Utah

Salt Lake City, Utah, 84112, United States

Location

University of Washington

Seattle, Washington, 98195, United States

Location

The University of Edinburgh

Edinburgh, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA, RNA and Peripheral blood mononuclear cells (PBMCs)

MeSH Terms

Conditions

Amyotrophic Lateral SclerosisMotor Neuron DiseaseMuscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurodegenerative DiseasesTDP-43 ProteinopathiesNeuromuscular DiseasesProteostasis DeficienciesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Matthew Harms, MD

    Columbia University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 7, 2016

First Posted

June 10, 2016

Study Start

June 8, 2016

Primary Completion

July 27, 2021

Study Completion

June 29, 2022

Last Updated

August 19, 2022

Record last verified: 2022-08

Data Sharing

IPD Sharing
Will share

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.

Locations