Genomic Translation for Amyotrophic Lateral Sclerosis Care

ALS Clinical Trial

— GTAC  

Official title:

Genomic Translation for Amyotrophic Lateral Sclerosis Care

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02795897
• Other study ID #: AAAQ7026
• Status: Completed
• Start date: June 8, 2016
• Est. completion date: June 29, 2022

Study information

• Verified date: August 2022
• Source: Columbia University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 254
• Est. completion date: June 29, 2022
• Est. primary completion date: July 27, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

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).

Related Conditions & MeSH terms

• ALS
• Amyotrophic Lateral Sclerosis
• Motor Neuron Disease
• Sclerosis

Locations

Country	Name	City	State
United Kingdom	The University of Edinburgh	Edinburgh
United States	Univeristy of Michigan	Ann Arbor	Michigan
United States	University of Colorado School of Medicine	Aurora	Colorado
United States	Duke University	Durham	North Carolina
United States	Penn State College of Medicine	Hershey	Pennsylvania
United States	Houston Methodist Neurological Institute	Houston	Texas
United States	Cedar Sinai Medical Center	Los Angeles	California
United States	University of Minnesota	Minneapolis	Minnesota
United States	Columbia University	New York	New York
United States	University of Pittsburgh Medical Center	Pittsburgh	Pennsylvania
United States	Oregon Health & Sciences University	Portland	Oregon
United States	Washington University	Saint Louis	Missouri
United States	University of Utah	Salt Lake City	Utah
United States	University of Washington	Seattle	Washington

Sponsors (3)

Lead Sponsor	Collaborator
Columbia University	ALS Association, Biogen

Countries where clinical trial is conducted

United States,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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