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 (NASDAQ:BIIB) 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.
Keep your eyes on these two developing drugs
Of course, there are also plenty of other promising drugs currently working their way through clinical trials.
Not surprisingly Biogen Idec, which tends to focus a good chunk of its pipeline around MS products, has an intriguing remyelination and neuroprotection drug in the works known as anti-Lingo-1. The experimental drug is currently being examined in two phase 2 studies (the SYNERGY trial) for relapsing forms of multiple sclerosis. If successful it could actually be able to reverse the myelin-damaging effects of MS. Data from SYNERGY is expected sometime in 2016.
Receptos (NASDAQ:RCPT) is also developing an intriguing novel relapsing MS-fighting agent, RPC1063. RPC1063 is a once daily pill designed to modulate the sphingosine 1-phosphate 1 receptor, or S1P1R pathway. S1P1R is express on white blood cells, and RPC1063 works by sequestering these white blood cells in peripheral lymphoid tissues and blocking their ability to get to areas of disease inflammation.
In the phase 2 RADIANCE trial RPC1063 led to an 86% reduction in lesions at both the 0.5 mg and 1 mg doses based on MRI analysis. In the phase 3 portion of the RADIANCE study, which was actually begun in late 2013 under a special protocol assessment with the Food and Drug Administration, RPC1063 will be pitted head-to-head against Biogen Idec's Avonex. With strong efficacy and safety in its phase 2 study, this is certainly a drug for relapsing MS patients, as well as investors, to monitor.
Small, but positive steps forward
It's still unclear when researchers will actually be able to cure MS, but one thing is for certain: we're taking small but positive steps in the right direction. We've witnessed a notable improvement in drug safety and a statistically significant jump in slowing down the progression of the disease with Tecfidera and a handful of clinical compounds. My hope is we'll continue to see this clinical progress continue to the point that one day we are discussing a functional cure for MS.
Sean Williams has no material interest in any companies mentioned in this article. You can follow him on CAPS under the screen name TMFUltraLong, track every pick he makes under the screen name TrackUltraLong, and check him out on Twitter, where he goes by the handle @TMFUltraLong.
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