Characterized by progressive focal muscle weakness that terminates with respiratory muscle failure, amyotrophic lateral sclerosis (ALS) reduces life expectancy by 3 to 5 years. Since 2008, all patients with ALS have been encouraged to join a national registry and provide biologic samples with a goal of determining factors that may contribute to disease progression. A session at the Asembia Specialty Pharmacy Summit 2019 delved into this rare disease, emphasizing the specialty pharmacist’s role in helping the approximately 5000 people per year who receive this diagnosis.

Sarah Dehoney, PharmD, started the session by reviewing an infographic from the ALS Association. She noted that ALS is remarkably difficult to diagnose, with the diagnosis usually made after many other illnesses are ruled out. For some unknown reason, military veterans are twice as likely to receive the diagnosis as other individuals. Motor neuron death in the brain and spinal column create the hallmark symptoms of weakness, atrophy, spasticity, difficulty swallowing, speech changes, and cognitive and behavioral changes, Dehoney said. Some genes have been associated with sporadic and familial ALS, but overall, investigators have no idea what causes neuronal death.

Common medications target glutamate and oxidative stress. Clinicians can employ other medications to target the excessive saliva production that results in troublesome drooling, emotional outbursts or tears, and spasticity. Dehoney discussed riluzole’s use in ALS, emphasizing its safety and efficacy. The other approved medication, edaravone, is a well-tolerated intravenous drug. She also discussed medications available in other countries and emerging treatments.

ALS is so rare and unusual that patients must see a neurologist who considers ALS a specialty. Generally, care includes a genetic investigation to determine whether the patient has certain genes that might be passed to their children.

Micaila Ruiz, PharmD, chief pharmacy officer at Amber Pharmacy in Omaha, Nebraska, joined Dehoney to discuss the clinical aspects of care germane to specialty pharmacists. This is an area of great concern—experts predict a 69% increase in the number of ALS cases before 2040. The older adult population and people living in developing nations will bear the greatest burden.

It is difficult to estimate the costs of ALS, but some reports indicate that it consumes approximately $1 billion annually in the American health care budget and patients incur tremendous out-of-pocket costs, according to the panelists.

The American Academy of Neurology and the European Federation of Neurological Societies offer guidelines that address ALS. Because a cure is impossible, the focus is on modifying the disease and providing symptomatic relief. When considering treatments for ALS, pharmacists who work in the specialty environment and are involved in pharmacy and therapeutics committees will need to consider factors such as drug acquisition and reimbursement costs, expanded use of pharmacoeconomic models, and market and regulatory changes.

Finally, Ruiz summarized the importance of a multidisciplinary approach to care. Every patient’s team should include a nutritionist to address difficulty swallowing, a common problem. Physical therapists and occupational therapists also are key, and respiratory therapists must monitor for signs of respiratory depression. Most patients will ultimately need a ventilator, she said. The pharmacist’s role is to contribute to decisions on medications that will improve quality of life and slow progression while avoiding polypharmacy.