Genomic Translation for Amyotrophic Lateral Sclerosis Care

NCT ID: NCT02795897

Last Updated: 2022-08-19

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 254 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-06-08
• Study Completion Date: 2022-06-29

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.

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.

Conditions

ALS

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility 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).

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

ALS Association

OTHER

Sponsor Role: collaborator

Biogen

INDUSTRY

Sponsor Role: collaborator

Columbia University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Matthew Harms, MD

Role: PRINCIPAL_INVESTIGATOR

Columbia University

Locations

Cedar Sinai Medical Center

Los Angeles, California, United States

University of Colorado School of Medicine

Aurora, Colorado, United States

Univeristy of Michigan

Ann Arbor, Michigan, United States

University of Minnesota

Minneapolis, Minnesota, United States

Washington University

St Louis, Missouri, United States

Columbia University

New York, New York, United States

Duke University

Durham, North Carolina, United States

Oregon Health & Sciences University

Portland, Oregon, United States

Penn State College of Medicine

Hershey, Pennsylvania, United States

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, United States

Houston Methodist Neurological Institute

Houston, Texas, United States

University of Utah

Salt Lake City, Utah, United States

University of Washington

Seattle, Washington, United States

The University of Edinburgh

Edinburgh, , United Kingdom

Countries

United States; United Kingdom

Other Identifiers

AAAQ7026

Identifier Type: -

Identifier Source: org_study_id