New Discoveries Shed Light on the Causes and Treatments of ALS
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a devastating neurodegenerative disorder that affects the motor neurons in the brain and spinal cord. While the exact cause of ALS remains unknown, recent research has revealed important insights into the genetic and environmental factors that contribute to the development of the disease.
According to Dr. Merit Cudkowicz, director of the Healey Center for ALS at Massachusetts General Hospital, approximately 10 percent of ALS cases can be attributed to inherited genes passed down from parents. For the remaining 90 percent of individuals without a family history of the disease, genetics still plays a role, with certain combinations of genes from both parents increasing the risk of developing ALS.
Environmental factors also play a significant role in ALS. Studies have shown that individuals engaged in strenuous physical activities, such as professional soccer and football players, are at a higher risk of developing the disease. Additionally, exposure to pesticides, tobacco smoke, and military service have been associated with an increased risk of ALS. These risk factors, though individually small, can accumulate over time and contribute to the development of the disease.
Researchers have also gained a better understanding of the underlying mechanisms of ALS. Similar to other neurodegenerative diseases like Alzheimer’s and Parkinson’s, ALS involves a protein-folding problem. In ALS, a protein called TDP-43 becomes mislocated and forms clumps, disrupting its normal function and leading to the death of motor neurons. Inflammation is also implicated in the progression of the disease, with increased inflammation accelerating the decline of motor function.
To address the urgent need for effective treatments, the Healey Center for ALS has initiated a groundbreaking “platform trial” funded by a generous gift from the late Sean Healey. This trial allows multiple drugs to be tested simultaneously, speeding up the evaluation of potential therapies. Currently, the trial encompasses seven drugs being tested across 70 sites in the United States, with promising results from two drugs targeting TDP-43 aggregation and others focusing on inflammation and the immune system.
Although ALS primarily affects motor neurons, recent research suggests that other parts of the nervous system may also be involved, especially in individuals undergoing life-extending treatments like ventilator support. This involvement can manifest as cognitive dysfunction, sensory disturbances, or dysfunction in the autonomic system that regulates heart rate and blood pressure.
Despite being classified as a rare disease, ALS still affects a significant number of individuals, with an estimated 35,000 to 40,000 people living with the condition in the United States at any given time. Furthermore, around 100 to 150 new cases of the genetic form of ALS are reported each year.
While it is currently not possible to prevent ALS, it is important to note that the risks associated with certain activities like sports involvement are relatively moderate. Moreover, the benefits of exercising and maintaining a healthy lifestyle greatly outweigh the potential risk of developing ALS.
In terms of treatment options, the landscape for ALS has significantly improved in recent years. There are now four or five drugs available that can slow down the progression of the disease. Additionally, a gene therapy drug developed by Biogen has shown remarkable results, with some patients experiencing a halt in disease progression and even improvements in symptoms. This drug is also being tested for its potential to prevent ALS in individuals carrying the specific gene associated with the disease.
However, there is still a great need for better treatments. Current medications only provide a 10 to 30 percent slowdown in disease progression, and there is a strong desire to develop more effective therapies that can truly make a difference in patients’ lives.
To support the ongoing research and development of ALS therapies, Sandra Bullock’s late partner and executive chairman of Affiliated Managers Group Inc., Sean Healey, made a significant donation to the Healey Center for ALS. The funds will be used to accelerate the process of drug development and provide access to experimental treatments for all ALS patients.
Dr. Cudkowicz believes that every individual living with ALS should have options beyond standard care and be given the opportunity to participate in clinical trials and access experimental drugs. By continuing to advance research and expand access to innovative treatments, there is hope for a brighter future for ALS patients and their families.
For more information, please contact Felice J. Freyer at [email protected] or follow her on Twitter @felicejfreyer.