ALSGTACNCT02795897
Genomic Translation for Amyotrophic Lateral Sclerosis Care
An observational study of ALS, run by Columbia University at 14 sites in 2 countries.
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. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- ALS
- How many people
- 254 participants
- Where
- 14 sitesin 2 countries
- Study dates
- 8 Jun 2016to 29 Jun 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with ALS (meeting El Escorial criteria for definite, probable or possible ALS), or primary lateral sclerosis or progressive bulbar/muscular atrophy.
Who may be able to join
- 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.
Who cannot join
- 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).
Trial locations and contacts
14 sites in 2 countries.
14 sites in 2 countries
United States13 sites
Univeristy of Michigan
Ann Arbor, Michigan, 48104
University of Colorado School of Medicine
Aurora, Colorado, 80045
Duke University
Durham, North Carolina, 27705
Penn State College of Medicine
Hershey, Pennsylvania, 17033
Houston Methodist Neurological Institute
Houston, Texas, 77030
Cedar Sinai Medical Center
Los Angeles, California, 90048
University of Minnesota
Minneapolis, Minnesota, 55455
Columbia University
New York, New York, 10032
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, 15213
Oregon Health & Sciences University
Portland, Oregon, 97239
University of Utah
Salt Lake City, Utah, 84112
University of Washington
Seattle, Washington, 98195
Washington University
St Louis, Missouri, 63110
About this study
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.
Read the 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
- Keywords
- genetics, genomics, amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), motor neuron disease
- Medical subject headings
- Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2016 (estimated)
- Study start8 Jun 2016
- Primary completion27 Jul 2021
- Study completion29 Jun 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for ALSStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 254 participants (actual)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- ALS Association, Biogen
- Responsible party
- Sponsor
- Investigators
- Matthew Harms, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02795897
- Sponsor's protocol ID
- AAAQ7026
- Acronym
- GTAC
- Status last verified
- Aug 2022
- First submitted
- 7 Jun 2016
- Last updated
- 19 Aug 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Translation for Amyotrophic Lateral Sclerosis Care
- ClinicalTrials.gov ID
- NCT02795897
- Acronym / sponsor ID
- GTAC / AAAQ7026
- Conditions
- ALS
- Keywords
- genetics, genomics, amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), motor neuron disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 254 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- ALS Association, Biogen
- Study start
- 8 Jun 2016 (actual)
- Primary completion
- 27 Jul 2021 (actual)
- Study completion
- 29 Jun 2022 (actual)
- First posted
- 10 Jun 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with ALS (meeting El Escorial criteria for definite, probable or possible ALS), or primary lateral sclerosis or progressive bulbar/muscular atrophy.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (5 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2022.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Matthew Harms, MD principal investigator
Columbia University
14 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of ALS, run by Columbia University at 14 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Aug 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Correlation of DNA genotype with ALS phenotypes (time frame: 36 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Aug 2022.