How ALS Could Benefit from a Flood of New Funding?

A viral social-media campaign has brought unprecedented money to a rare disease. How might new funding help ALS research?

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It’s no surprise that social-media campaigns can raise awareness of an issue, but the ALS Ice Bucket Challenge may be unprecedented in its impact on a relatively rare disease. The campaign, in which participants must donate to an ALS cause or take videos of themselves being doused in ice, has gone viral since it began in late June. But it has also generated controversy, with some questioning the attention and flood of cash for a disease that affects a small number of people.

As of Friday, the ALS Association had received $53.3 million since July 29, compared with $2.2 million by that time last year. To put it in perspective, the National Institutes of Health’s yearly budget for ALS research is $40 million. Other ALS charities are also benefitting similarly from the campaign.

All of this could be a big boost for ALS research. ALS (amyotrophic lateral sclerosis, also called Lou Gehrig’s disease) is a devastating and ultimately fatal disease that causes deterioration and death of the movement-controlling nerve cells in the brain, brain stem, and spinal cord. It usually progresses rapidly and becomes fatal when a person loses the ability to swallow or breathe.

So far, the ALS Association, which has received the bulk of donations, has not announced how the Ice Bucket Challenge money will be directed or how much will go specifically to research. But the influx of cash could have a big impact on a disease that’s been frustratingly hard to comprehend or treat.

In spite of progress toward understanding the disease, there’s no known cure, and treatments are limited. Here are some of the key problems that ALS researchers are investigating—areas that could benefit from extra funding.

Who gets ALS?

While some people get ALS because they inherit a mutation in one of more than a dozen genes that studies have linked to the disease, 90 percent of those affected have no known risk factors. In the past few years, however, a lot of progress has been made in studying the genetics of ALS, which could help pinpoint the underlying mechanisms of the disease and find possible drug targets. In 2011, for instance, researchers discovered that repetition of DNA sequences in a gene called C9ORF72 is the most common cause of familial ALS and also contributes to noninherited cases of the disease. A wave of new research is now exploring the roles of this gene in greater detail.

What causes the damage that characterizes ALS?

There are still many theories that have not attracted a clear consensus. One of the leading areas of research has to do with abnormalities in RNA molecules and the buildup of proteins in cells. But it may be that a combination of other factors is also to blame.

Why are the effects of ALS so variable?

Some people with ALS have damage only to motor neurons, so their minds remain sharp even as their ability to control their bodies deteriorates. Others experience cognitive problems and dementia. The pace of progression also varies widely. Physicist Stephen Hawking, who was diagnosed with ALS at age 21 and is now in his early 70s, is an outlier. Most people develop the disease later in life and die within three to five years of diagnosis. A major research effort is under way to understand the differences underlying distinct ALS types. The ALS Therapy Development Institute in Cambridge, Massachusetts, has announced that it will direct its Ice Bucket Challenge money to a new sample collection effort that will study 100 ALS patients in unprecedented depth—sequencing their genomes, profiling their clinical history, using accelerometers to study their movements, and creating stem cells from their skin samples. The goal will be to develop therapies tailored to specific ALS subgroups.

What are the challenges involved in developing ALS treatments?

Because ALS is designated as an “orphan” disease (affecting fewer than 200,000 people in the United States), potential treatments have fewer hurdles to pass on their way to FDA approval. But it’s challenging to recruit patients for trials when there’s such a small pool to begin with. What’s more, many drugs that have seemed promising in laboratory research failed in clinical trials, so leaders of the ALS Therapy Development Institute say that scientists need to get smarter and more rigorous in how they conduct studies.

One option is to use cells from ALS patients rather than animals to screen for drugs. Researchers at the Harvard Stem Cell Institute are testing potential therapies in the lab using induced pluripotent stem cells from ALS patients—skin cells that have been transformed into stem cells and then coaxed to become neurons. They recently identified a drug approved for epilepsy that might help; it is now being tested in ALS patients.