Disease of the Month – Amyotrophic Lateral Sclerosis (ALS)

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Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that leads to the progressive degeneration of nerve cells in the spinal cord and brain

Our Disease of the Month report covers epidemiology, market size, current management strategies, emerging therapeutic options, and the role of patient advocacy groups. Additionally, we highlight the key industry players advancing treatments for ALS

For a detailed analysis and tailored insights into the epilepsy landscape, contact our experts at connect@pharmashots.com.

ALS is a neurological disorder affecting motor neurons responsible for voluntary muscle movement and breathing. ALS typically affects people aged 40 to 70 but can occur at a younger age and impacts all races and ethnic groups^[1]

There are two primary types of ALS: ^[2]

Sporadic: Accounting for up to 90 % of ALS cases, sporadic cases occur randomly without a known genetic cause or family history

Familial: This inherited form of ALS affects a small population, but recent genetic findings suggest it may be more common than presumed earlier

Researchers have still not identified the exact causes of ALS, but it is believed that it involves a combination of factors:^[3]

Genetics: Genetic changes may cause ALS in up to 70% of familial cases and 5%-10% of sporadic cases. Over 40 genes are linked to ALS, with C9orf72, SOD1, TARDBP, and FUS being the most common, affecting neuron function

Environment: Exposure to toxins (like lead or mercury), viruses, or physical trauma may trigger ALS

Early symptoms include: ^[1]

Twitching muscles in the arm, leg, shoulder, or tongue

Muscle cramps

Tight and stiff muscles (spasticity)

Muscle weakness in the arm, leg, or neck

Slurred and nasal speech

Difficulty chewing or swallowing

As ALS progresses, muscle weakness and atrophy spread, causing issues with:

Chewing food and swallowing (dysphagia)

Drooling (sialorrhea)

Speaking or forming words (dysarthria)

Breathing (dyspnea)

Pseudobulbar symptoms

Constipation

Maintaining a healthy body weight and getting adequate nutrients

You’ll need several tests to confirm an ALS diagnosis, including:^[4]

Electromyogram (EMG): A needle is inserted into different muscles through the skin

Nerve Conduction Study: This study measures how well your nerves send impulses to muscles in different body areas

MRI: An MRI uses radio waves and a magnetic field to create detailed images of the brain and spinal cord

Blood & Urine Tests: Testing blood and urine samples can help rule out other causes of your symptoms

Spinal Tap (Lumbar Puncture): Analyzes spinal fluid for abnormalities

Muscle Biopsy: If a muscle disease is suspected instead of ALS, you may have to undergo a muscle biopsy

Nerve Biopsy: If a nerve disease is suspected instead of ALS, you may have to undergo a nerve biopsy

There are no available treatment options to reverse damage to motor neurons or cure ALS but there are treatments to slow down the progression of symptoms: ^[4]

Medication: There are many FDA approved medications for treating ALS: riluzole, edaravone, and sodium phenylbutyrate/taurursodiol

Therapies: Breathing care, physical therapy, occupational therapy, speech therapy, nutritional support, and psychological & social support are among the many available therapies to enhance the quality of lives of ALS patients

Prevalence: In 2022, there were an estimated 32,893 ALS cases, with a prevalence of 9.9 per 100,000 people. ^[5]

The global ALS treatment market, valued at $673.4M in 2023, is projected to reach $1271.6M by 2033, growing at a CAGR of 6.5% from 2024 to 2033 ^[6]

RADICAVA is indicated for the treatment of amyotrophic lateral sclerosis (ALS) ^[7]

Approved therapies include Rilutek (Covis Pharma & Sanofi), EXSERVAN (Aquestive), RADICAVA & RADICAVA ORS (Mitsubishi), and QALSODY (Biogen).

Active trials are concentrated in the US, followed by Spain, Australia, and Italy. Data were extracted on Feb 19, 2025 ^[8]

Several patient advocacy groups are dedicated to supporting individuals with ALS and improving their quality of life.

1. John "Jackie" Buzby ^[9]

I was born Valentines Day, 1953, and have five siblings, two brothers and three sisters. As a youth, I participated in baseball and ice hockey, and as a young man, I continued playing ice and roller hockey. I married my wife Sandy in 1972, and we have two wonderful sons, Paul and Kevin, as well as a wonderful daughter-in-law, Michelle, and a grandson, David. When I was diagnosed in October 2014, it was the most devastating day of my life. First, I had no idea what ALS was, and having to break this news to my family was gut-wrenching. Then, I was referred to ALS Hope, Dr. Patterson and her team. That was the best thing that could have happened. Seeing the team every three months gives me peace of mind, as I've told the Doctor in the past. Though ALS takes my physical abilities away, the emotional part is just about as bad as the disease itself. Though I am having difficulties doing what most people take as normal, I have a great support team in my friends and the ALS Hope team, and especially my family. I am hoping that the cure for ALS is found sometime in the near future.

2. William Snyder ^[9]

Life's happiness, no matter what your journey is carved out to be, relies on a good attitude, faith in God and a desire to make the most out of every day. Desire becomes more difficult as the disease progresses. But like everything in life, the things worth fighting for are usually the most difficult. For me, I have always had a great desire to set an example to the people around me. I grew up in foster care and my entire journey has been tough. I can make the most sense out of my life if I think that God is using me as an example to others. I believe that all of us with this terrible disease can turn it into a thing of beauty by affecting the people around us in a positive way. See, when people are going through things and see us still plowing through life in a meaningful way, it helps them to realize they can do it too. There are days I wish I was not chosen for this. I can wallow and feel sorry for myself or I can take it for what it is and make the most out of it.

For me, that way is by living my life every day to the fullest. Cynthia and I have always tried to do this. When we were raising our kids (6 of them) we did not have much money. We use to put a popup tent in the backyard and have date nights. The kids knew when we were in the tent unless someone was dying, do not bother us. We are fortunate today that this disease struck me at a point in our lives where our children are grown. Because we were always careful with our money we have the means to travel in our RV and enjoy the sites and our time together. But I know even if we did not have a nickel, we would find a way to still do things and enjoy life in ways that we had to in the past.

Not only is enjoying life and doing fun things keeping me going (I am three years into symptoms with this disease), but I am still setting an example especially to our grown children, that life no matter the circumstances is purely what you make it.

I have always been a person that likes it straight up. Once I know what is ahead, I can make a plan and take it on. Taking life on with my terms means appreciating all I have and all I can still do, not what I can't do. My inspiration to all of you is, try it. I promise you will be happy you did.

God Bless all of you! We have been given a great mission to show others that greatness is in every part of the journey.

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