Therapeutic Experts Bill Holt, DO (Executive Director, Neurosciences) and Amy Raymond, PhD (Clinical Scientist, Rare Diseases) will be attending the <a href="https://www.mndassociation.org... International Symposium on ALS/MND</a>, being held this year December 8-10 in Boston, MA.
In 1939, very few people had heard of Amyotrophic Lateral Sclerosis (ALS), but every baseball fan knew about Lou Gehrig.
Nicknamed “Iron Horse” for the endurance and strength that led to his record-breaking athletic achievements, and widely admired for humility and kindness, fans began to see a dramatic change in his performance. His statistics were dropping, and his coordination and speed deteriorated rapidly.
After extensive testing, the reason behind his decline was discovered: He had ALS, and his name became synonymous with the disease in North America. By humanizing this rare disease, every one of the 15 people who are diagnosed with ALS every day in this country are able explain their condition with something more than an acronym.
Like other motor neuron diseases (MND), ALS is characterized by the progressive degeneration and eventual death of nerve cells (motor neurons) in the brain, brainstem and spinal cord that facilitate communication between the nervous system and voluntary muscles of the body. Ordinarily, motor neurons in the brain (upper motor neurons) send messages to motor neurons in the spinal cord (lower motor neurons) and then to various muscles. ALS affects both the upper and lower motor neurons, so that the transmission of messages is interrupted, and muscles gradually weaken and waste away. As a result, the ability to initiate and control voluntary movement is lost over time, until the patient is completely paralyzed.
ALS is one of approximately 7,000 known rare diseases, which together affect an estimated 350 million people worldwide, and one of several rare neurological diseases without disease-modifying treatment options. There are two broad categories of ALS, familial and sporadic. Inherited, or familial, ALS accounts for 5-10% of all ALS cases, with the remaining 90-95% of ALS being sporadic cases. Sporadic ALS can affect anyone, at any time, but most ALS patients are 40-70 years old. The role of non-genetic risk factors for ALS remain unclear, but higher incidences among US military service members and athletes from around the world have been noted.
Therapeutic Experts Bill Holt, DO (Executive Director, Neurosciences) and Amy Raymond, PhD (Clinical Scientist, Rare Diseases) will be attending the Annual International Symposium on ALS/MND, being held this year December 8-10 in Boston, MA.
The process of formally diagnosing ALS usually takes about one year. The initial symptoms can be subtle muscle twitching, cramping, or weakness, with medical care only sought when symptoms remain unresolved or progress over time. Once in the clinic, there are no lab tests or biomarker assays to provide clear guidance to the treating physician. Once ALS starts, it almost always progresses, eventually taking away the ability to walk, dress, write, speak, swallow, and breathe. It also shortens the life span. The average survival time is three years, but about twenty percent of people with ALS live five years, 10 percent will survive 10 years, and five percent will live 20 years or more (for example, the renowned physicist Stephen Hawking). Not only does the disease timeline differ among patients, but the individual progression can also be variable, with some people experiencing intermittent progression punctuated by periods of relative stability of their disease.
In a shining example of advocacy, ALS patient Pete Frates (pronounced FRAY-deez) made himself a very public figure following his 2012 diagnosis. Being diagnosed with ALS immediately halted Pete’s baseball career, but he and his family have dedicated themselves to making a difference in ALS. Just as Lou Gehrig was the first to be the face of this rare disease, today Pete and his team, known collectively as the Frete Train, raise funds and generously invite us all to share in their journey with ALS.
The Ice Bucket challenge has been phenomenally successful in raising both awareness and funds for ALS. ALS charities and non-profits have received record-breaking donations, including $115 million total donations received by the ALS Association in 2014. These funds have been used to support hundreds of basic research projects, including efforts to identify ALS biomarkers, enabled identification of previously unknown genes involved in familial ALS, significantly increased funding to the National ALS Registry, and doubled funding to ALS Treatment Centers.
Decades of tireless efforts by ALS researchers around the world and more recent technological advancements combine to bring us closer today than we’ve ever been before to being able to provide ALS patients with effective therapies. There are many small molecules being identified and developed, several groups developing and testing mesenchymal stem cell and induced pluripotent stem treatments, plus various gene therapies being evolved – with some studies using a combination of these modalities. But the clock is still ticking: There are an estimated 20,000-30,000 ALS patients in the U.S. today, all with high unmet medical needs and awaiting meaningful treatment options.
The leading ALS researchers from around the world gather once per year at the International Symposium on ALS/MND to share insights, collaborate, and brainstorm, collectively driving the forward momentum in the fight against ALS. As we learn more about the mechanism of this devastating disease, we move ever closer to developing much needed disease-modifying treatments and cures.
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RARE DISEASES NEWSLETTER Volume 6, May 2017
This quarterly publication will keep you up to date on PRA’s Rare Disease Team focus, achievements, and new initiatives.