For a disease that affects 2.5 million people around the globe and more than 400,000 people in the United States, it's a shame that so little is known about multiple sclerosis despite the amount of money being put into research of the disease.
MS is usually diagnosed between the ages of 20 and 40 and is a progressive autoimmune disease that breaks down the myelin sheath that encapsulates a person's neurons and can negatively affect motor function. Researchers have long believed the disease triggers due to some combination of genetic and environmental factors. MS tends to have a higher incidence rate the farther you get from the equator, but no one is entirely certain why.
Taking into account that there is no cure for MS, ongoing research into the disease is greatly needed.
Apparently researchers are heeding this advice because for the second time in about a month new data emerged on MS that could lead to more targeted and successful treatments.
Could this be game-changing news for select MS patients?
According to a seven-author study published last month in the journal ASN NEURO , a discovered genetic variant found in women could be one of the strongest genetic predictors of whether or not MS will develop.
Following a chronicled instance where five siblings all developed MS (a rare occurrence), researchers at the University of Illinois at Chicago were able to test for a specific gene variant in three of five sisters (all between the ages of 23 and 26) that were diagnosed with MS. Their findings showed that there was a change in a single base-pair of DNA (known as a single nucleotide polymorphism, or SNP) in the STK11 gene in all three sisters. This gene is believed to play a role in tumor suppression as well as other brain functions.
Further research by senior study author Doug Feinstein uncovered prior completed mouse model studies where the STK11 gene had been disabled. Within those studies researchers observed a higher incidence in the loss of myelin from the mice's central nervous system. In other words, this was a pretty striking parallel with what occurs in patients with MS.
In order to establish that the SNP in the STK11 gene was a potentially valid risk indicator, researchers examined DNA samples from 1,400 people, of which 750 had MS and 650 did not. The findings showed that this particular SNP was 1.7 times more prominent in women with MS than women without MS.
Per researchers, this SNP in the STK11 gene is present in about 7% of the general population, but not all of those people will develop MS. Additionally, researchers note that there are other genetic and nongenetic factors at play here, so more research will be needed.
Still, this research could open the door for drug developers to focus on mutations in the STK11 gene to help protect select women against the disease.
A major advance in MS treatment
Although we're still likely still years away from going after the root causes of MS, we have seen a fair number of advancement on both pharmacy shelves and in clinical trials in recent years.
Topping the list of approved medical advances in MS is Biogen Idec 's Tecfidera, which was approved in March 2013. In two phase 3 studies that led to Tecfidera's approval, the drug reduced the number of MS relapses by 49%, and it led to a 71% to 99% reduction in new lesions as measured by an MRI on trial patients.
It was also a big step forward in safety relative to Aubagio from Sanofi and Gilenya from Novartis . Aubagio comes with a black-box warning against certain types of liver complications that could lead to death, while Gilenya, in rare cases, has caused cardiovascular problems. This isn't to say Tecfidera doesn't have side effects, but its side-effects list was considerably more preferable to physicians and MS patients.
As should come as little surprise, Tecfidera sales soared in 2014, totaling $2.91 billion. If not for Gilead Sciences ' hepatitis C drugs Sovaldi and Harvoni, Tecfidera's sales ramp up could be the best ever, indicating just how much of an improvement in terms of quality of life the drug provides.
Story Source: The above story is based on materials provided by NASDAQ
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