Humans carry two copies of the C9ORF72 gene, each containing a stretch of DNA in which a sequence of DNA building blocks coded GGGGCC is repeated a number of times. (Each six-letter sequence is called a "repeat.")

When one of the two copies is mutated so that it contains a far greater than normal number of GGGGCC repeats (a repeat expansion mutation), it can cause some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

On Aug. 8, 2012, the National Institute of Neurological Disorders and Stroke (NINDS) reported that it has stopped a phase 3 clinical trial of the antibiotic ceftriaxone in amyotrophic lateral sclerosis (ALS) because the study was "unlikely to reach the predetermined efficacy criteria."

MDA launched its innovative Bridge-to-Industry (B2I) program with a $180,000 grant over three years to postdoctoral fellow Archi Joardar at The University of Arizona in Tucson, to develop two promising drug candidates for the treatment of amyotrophic lateral sclerosis (ALS).

MDA’s Bridge-to-Industry, or B2I, is a pilot project that trains promising researchers in translational research by providing experience both in academia and the biopharmaceutical industry.    

Disruption of a “transporter” protein called MCT1 (also SL16A1) leads to the degeneration of muscle-controlling nerve cells (motor neurons) in animal and cell culture models of amyotrophic lateral sclerosis (ALS), an MDA-supported team of researchers has reported.

In addition, the team found that MCT1 activity is reduced in people with ALS and in mouse models of the disease. 

In a more than 20-year study of people with amyotrophic lateral sclerosis (ALS), a research team found that 11 percent of people with a diagnosis of sporadic ALS had mutations in genes associated with the familial form of the disease.