People taking the ice bucket challenge to raise funds for amyotrophic lateral sclerosis (ALS) were everywhere this summer. The challenge – which involves dousing yourself in freezing water, and/or making a donation – was all the rage with the public, celebrities and politicians. It became a viral phenomenon, and raised millions of dollars.
The wacky challenge gave a much-needed boost to research donations, but it also raised awareness of a condition that is in desperate need of effective therapies. ALS is the most common form of motor neuron disease and has no cure. The one therapy available (riluzole) provides only marginal benefits; there’s still a long way to go. As a recent article in The Lancet points out (1), the current level of funding may not last, unless ways are found to keep the momentum of the recent ice bucket campaign going. The laboratories and charities who have received these donations must also decide how best to use funds to combat the disease.
Despite nearly 30 years of work, two people per 100,000 die of ALS every year in Europe (2) and it is well known for its bleak prognosis and severe shortening of lifespan – the median survival is two to four years from onset, and one to three years from diagnosis.
It’s this gloomy outlook that has spurred University of Turin’s Adriano Chiò to dedicate years of research into the condition and to set up the Turin ALS Centre, where researchers (among many other achievements) have identified a genetic mutation in up to 10 percent of patients (in C9orf72), a possible link with dementia in some instances, and insights into structural and functional changes in ALS. Interestingly, one of their latest research crusades could see a blood test that tracks disease progression soon become reality. When testing samples from newly-diagnosed as well as progressed ALS patients, Chiò’s team found a link between low serum creatinine levels and muscle wastage, and low serum albumin with raised inflammatory markers levels. Importantly, the combination of low serum creatinine and albumin was associated with significantly impaired clinical function at diagnosis (3).
“These two simple measurements, which are already part of many clinical examinations, can give us a much more accurate prognosis on how long the patient has to live than we have at the moment,” explains Chiò. Considering how widely available and routine tests for serum albumin and creatinine are, it’s not hard to see why this approach to prognostic testing would be welcomed by the medical community.
Researchers no doubt hope that this rare but deadly condition will remain in the public consciousness, resulting in much higher levels of funding. But work will continue and progress will be made even if fame proves to be fleeting.
Newsletters
Receive the latest pathology news, personalities, education, and career development – weekly to your inbox.
References
- “The Bucket List for Amyotrophic Lateral Sclerosis”, Lancet Neurol., 13, 1061 (2014). G. Logroscino et al., “Incidence of Amyotrophic Lateral Sclerosis in Europe”, J. Neurol. Neurosurg. Psychiatry, 81, 385–390 (2010). A. Chiò et al., “Amyotrophic Lateral Sclerosis Outcome Measures and the Role of Albumin and Creatinine”, JAMA Neurol., 71, 1134–1142 (2014).
