What is Lou Gehrig’s Disease?
ALS was first discovered in 1869, but it wasn’t until Gehrig’s diagnosis that the disease received international attention. This progressive, neurodegenerative disease affects motor neurons in the brain and spinal cord. As these neurons degenerate, they can no longer send impulses to the muscle fibers that result in muscle movement. Early symptoms of the disease include increasing muscle weakness, especially in the limbs, as well as problems with speech, swallowing and breathing. Eventually, the neurons that control the lungs and heart cease to function, requiring patients to be placed on ventilators, eventually resulting in death.
Gehrig was only 36 when he was diagnosed with ALS, and he survived only two years after making his farewell speech. However, ALS typically strikes people between the ages of 40 and 70, affecting about 30,000 Americans at any given time, with about 5,000 new cases diagnosed each year. According to the ALS Association, typical life expectancy for a patient diagnosed with ALS is between three and five years, although Stephen Hawking has lived with the disease for 51 years. While Gehrig’s name is most closely associated with the disease, ALS has cut short the lives of many notable figures, from Sesame Street creator Jon Stone to former Vice President of the United States Henry A. Wallace.
The Bucket List
In 2014, the ALS Association took the national spotlight with their ice bucket challenge, which went viral with both celebrities and everyday citizens around the country and around the world. Since launching the challenge on July 29, 2014, the ALS Association raised more than $115 million in donations, of which $21.7 million were already allocated to six research initiatives around the globe that are seeking treatments and cures for this deadly disease.
New Breakthroughs Offer New Hope
In November 2014, scientists at Thomas Jefferson University announced a new breakthrough in ALS treatments -- blocking certain types of proteins in the brain may help drugs that have so far failed to treat ALS become effective. In our brains, there are proteins that remove toxins and pump them out through the lymph system. In ALS patients, however, these protein pumps work in overdrive, pumping the ALS drugs out of the brain as well, which may be why a majority of ALS drugs fail to be effective, despite promising early-stage research.
There is currently only one FDA-approved medication for ALS: riluzole, which may be able to extend the life of an ALS patient by a few months because it delays the period before a patient would need to be put on a ventilator. This drug has only been found to delay the progression of ALS and does not appear to repair the damage that has already been done to the motor neurons.
In a trial conducted on mice infected with ALS, the Thomas Jefferson University researchers were able to identify two specific “pumps” in the brain that interact with riluzole and limit its effectiveness: P-glycoprotein (P-gp) and breast-cancer resistant protein. When treated with an experimental compound called Elacridar to block these proteins, researchers found that the mice had an extended lifespan, and some of the symptoms were alleviated, including improving and preserving muscle strength.
One of the findings, published in the Annals of Clinical and Translational Neurology, indicated that previously discarded ALS drugs may be worth revisiting in combination with Elacridar. They concluded that the reason many ALS drugs seem to fail could be a result of the brain’s own defense mechanisms. As the disease increasingly attacks and damages motor neurons, the brain creates more pumps to try to fight back and remove the damaged neurons while also removing the ALS drugs introduced to fight the disease.
While drug treatments may be re-evaluated in combination with selective pump inhibitors, research abroad has led to a different approach in battling ALS that is also showing promise: stem cell transplants.
According to the Palm Beach Post, in 2014, the FDA approved a Phase II clinical trial, conducted in fall 2014 at Massachusetts General Hospital, University of Massachusetts Memorial Hospital and Mayo Clinic, of a stem cell treatment that was developed in Israel. The treatment, if approved, would involve harvesting a patient’s own stem cells and then multiplying them in cultures. Doctors would re-inject them into a patient’s spinal fluid.
As reported in the Palm Beach Post, this treatment was developed and initiated in Jerusalem by neurologist Dimitrios Karussis, who began injecting enhanced “autologous” stem cells into the spinal cords of ALS patients in 2007. In every case, the patients tolerated the treatment well and responded positively to it. When tracked over a 12-month period, 67 percent of patients showed a marked slowing in the progression of symptoms, and three patients experienced a regression of symptoms.
While the treatment is promising, it is not permanent. Dr. Karussis and his colleagues speculate that the treatment would have to be repeated every few months to achieve maximum results. Growing these stem cells is costly and time-consuming but also may provide breakthroughs for other diseases. Karussis and his associates are optimistic that if the ALS stem cell trials, which will last through the end of 2015, are successful, then similar treatments for other neurological disorders -- including Parkinson’s disease and multiple sclerosis, can be devised.
There are many more barriers to cross in the fight against ALS, but recent advances are giving many hope that a breakthrough is imminent and are raising prayers that breakthrough will come in time to save loved ones.