Amyotrophic lateral sclerosis
Education on Amyotrophic lateral sclerosis and Alpha-1 Antitrypsin research from the Mark Egly Foundation, with patent claims clearly labeled as hypothesis.
Research hypothesis, not medical advice
The connections described on this page come from Mark Egly's patent filing and ongoing research. They are not established medical facts. Always work with your physician for diagnosis and treatment.
Research hypothesis. The connection between Amyotrophic lateral sclerosis and Alpha-1 Antitrypsin is described in Mark Egly's 2020 patent filing. This is not established medical fact and is not medical advice. Always talk with your doctor about your own health.
What is Amyotrophic lateral sclerosis?
Amyotrophic lateral sclerosis is a health condition discussed in Mark Egly's research on Alpha-1 Antitrypsin. It is also known as ALS, Lou Gehrig's Disease. Neurological conditions affect the brain, spinal cord, or nerves. The patent explores links between AAT levels and certain neurodegenerative processes.
What Mark Egly's patent discusses
Excessive neutrophil elastase ("NE") is associated with amyotrophic lateral sclerosis ("ALS"), which is commonly known as Lou Gehrig's disease. ALS is a progressive and fatal neurodegenerative disease leading to muscle weakness and paralysis. Neuroinflammation is a recognized pathogenic mechanism underlying the motor neuron degeneration that occurs in ALS. Trias et al demonstrated that degranulating mast cells were abundant in the quadriceps muscles of ALS subjects but not in controls. Additionally, Trias et al found that mast cells and neutrophils were abundant around motor axons in the extensor digitorum longus muscle, sciatic nerve, and ventral roots of symptomatic SOD1G93A rats, indicating that immune cell infiltration extends along the entire peripheral motor pathway. Therefore, there is evidence for a contribution of immune cells in peripheral motor pathway degeneration that can be therapeutically targeted by tyrosine kinase inhibitors. Excessive immune cells associated with degeneration in ALS patients may be targeted with the administration of AAT regardless of whether or not the patient has known AATD. A diagnosis of ALS may prompt a medical provider to test a patient for…
How this may relate to Alpha-1
Mark Egly's patent proposes that when the body has too little working Alpha-1 Antitrypsin, or when neutrophils release too much neutrophil elastase, inflammation and tissue damage may worsen. For Amyotrophic lateral sclerosis, the patent suggests that testing for AATD or low circulating AAT could help guide care. This is a research hypothesis, not a proven treatment path for everyone with this condition.
What you can do
If you or a family member lives with Amyotrophic lateral sclerosis, consider learning about Alpha-1 Antitrypsin Deficiency and discussing AAT testing with your healthcare team. The Mark Egly Foundation offers education and community support: