Study 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.
Study Status:
Not recruiting
Disease:
Amyotrophic Lateral Sclerosis (ALS) , Familial ALS , Sporadic ALS , Primary Lateral Sclerosis (PLS)
Study Type:
Observational
Type of Intervention:
N/A
Intervention Name:
N/A
Placebo:
N/A
Phase:
N/A
Study Chair(s)/Principal Investigator(s):
Matthew Harms, MD, Columbia University
Clinicaltrials.gov ID:
Neals Affiliated?
Yes
Coordinating Center Contact Information
Columbia University
ALS Center Research Coordinator / email hidden; JavaScript is required / 212-305-2202
New York, New York, 10032 United States
Full Study Summary:
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 Sponsor:
Columbia University
Estimated Enrollment:
1500
Estimated Study Start Date:
06 / 08 / 2016
Estimated Study Completion Date:
11 / 30 / 2020
Posting Last Modified Date:
07 / 22 / 2020
Date Study Added to neals.org:
06 / 21 / 2016
Minimum Age:
18
Maximum Age:
80
Inclusion Criteria:
-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.
Exclusion Criteria:
-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).
Cedar Sinai Medical Center
Carolyn Prina / 310-423-1713 / email hidden; JavaScript is required
Los Angeles, California
90048
United States
University of Colorado School of Medicine
Kim Klawson-Stone / 303-724-4644 / email hidden; JavaScript is required
Aurora, Colorado
80045
United States
Univeristy of Michigan
Blake Swihart / 734-763-8284 / email hidden; JavaScript is required
Ann Arbor, Michigan
48109
United States
University of Minnesota
Valerie Ferment / 612-301-1535 / email hidden; JavaScript is required
Minneapolis, Minnesota
55455
United States
Washington University
WU Neuromuscular Clinical Studies Line / 314-362-6159 / email hidden; JavaScript is required
St. Louis, Missouri
63110
United States
Columbia University
ALS Center Research Coordinator / 212-305-2202 / email hidden; JavaScript is required
New York, New York
10032
United States
Duke ALS Clinic
Charles Loughlin / 919-668-2836 / email hidden; JavaScript is required
Durham, North Carolina
27705
United States
Oregon Health & Sciences University
Diana Dimitrova / 503-494-7269 / email hidden; JavaScript is required
Portland, Oregon
97239
United States
Penn State College of Medicine
Dodi Schaak / 717-531-0003 ext 280842 / email hidden; JavaScript is required
Hershey, Pennsylvania
17033
United States
University of Pittsburgh Medical Center
Danielle Rowlands / 412-864-2873 / email hidden; JavaScript is required
Pittsburgh, Pennsylvania
15213
United States
Houston Methodist Neurological Institute
Sharon Halton / 713-441-3420 / email hidden; JavaScript is required
Houston, Texas
77030
United States
University of Utah
Teresa Janecki / 801-581-3724 / email hidden; JavaScript is required
Salt Lake City, Utah
84112
United States
University of Washington
Lyndi Hennings / 206-543-0454 / email hidden; JavaScript is required
Seattle, Washington
98195
United States
The University of Edinburgh
Siddharthan Chandran, MD / 44-0-131-465-9519 / email hidden; JavaScript is required
Edinburgh
United Kingdom