Genomic Translation for Amyotrophic Lateral Sclerosis Care

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.

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).