Science
Mechanism of Disease Challenges of Early ALS Diagnosis Publications Webinars
INSIDE ALS: THE NEURONS BEHIND THE DISEASE
Learn how endoplasmic reticulum and mitochondrial dysfunctions contribute to ALS pathophysiology.
MECHANISM OF DISEASE
Recent progress in the understanding of neurodegenerative diseases revealed that multiple molecular mechanisms contribute to pathological changes in neurons. A large fraction of these alterations can be linked to biochemical dysfunction in the endoplasmic reticulum (ER) and mitochondria — physically and functionally interconnected via mitochondrial-associated membranes (MAM), which participate in Ca2+ signaling, lipid transport, energy metabolism and cell survival. Apart from their vital physical association coordinating pathways involved in cell life and death, any loss of communication in them complicates and worsens the prevailing conditions in neurodegenerative diseases like ALS and Alzheimer’s disease.
Healthy, functional motor neurons are necessary for muscle function and human vitality.
In ALS, various environmental and genetic insults, as well as risk factors, cause the malfunction, deterioration and death of motor neurons.
Many of the internal pathways that lead to degeneration converge on the endoplasmic reticulum (ER) and mitochondria.
THE CHALLENGE OF EARLY ALS DIAGNOSIS
While delays in ALS diagnosis are common, early accurate diagnosis by an ALS specialist improves patient care and makes it possible for people to avoid unnecessary procedures and specialist referrals. Early ALS symptoms include muscle weakness, atrophy, spasticity, difficulty speaking, chewing or swallowing, but may vary by patient.
Publications
Trial of Sodium Phenylbutyrate / Taurursodiol for Amyotrophic Lateral Sclerosis
AMX0035 (sodium phenylbutyrate/taurursodiol) targets endoplasmic reticulum and mitochondrial dependent neuronal degeneration pathways in ALS and other neurodegenerative diseases. Results from the pivotal CENTAUR trial evaluating AMX0035 demonstrate a statistically significant benefit on the ALSFRS-R rating scale in people with ALS. Read more in the New England Journal of Medicine publication.
Learn MoreLong-Term Survival of Participants in the CENTAUR Trial of Sodium Phenylbutyrate-Taurursodiol in ALS.
Results from a comprehensive analysis of survival in participants with ALS in the CENTAUR trial demonstrate a long-term survival benefit from early initiation of AMX0035. Read more in the Muscle & Nerve publication.
Learn MoreAdditional Resources Relevant Trials
WEBINAR – RESULTS FROM THE CENTAUR TRIAL
An overview of findings from the clinical trial of AMX0035 for the treatment of Amyotrophic Lateral Sclerosis (ALS).