World Day Against Amyotrophic Lateral Sclerosis

8 years ago we witnessed how thousands of personalities around the world and also in Argentina challenged each other with throwing a bucket of cold water (#IceBucketChallenge), or even ice, in a campaign that went viral very effectively to alert about a very serious neurodegenerative disease: Amyotrophic Lateral Sclerosis (ALS).

To raise awareness about one of the rare diseases (EPOF), which at the moment has no cure, the World Health Organization (WHO) remembers today the World Day of Amyotrophic Lateral Sclerosis (ALS).

You may be interested in reading What is ALS, the disease suffered by Esteban Bullrich

Also known as Lou Gehrig’s disease, after the baseball player who was first diagnosed with it, ALS is a progressive pathology of the nervous system that affects nerve cells in the brain and spinal cord, causing loss of muscle control. The causes that originate it are unknown and at the moment there is no cure. It affects five out of every 10,000 inhabitants and the average survival of patients is 3 to 5 years. In some exceptional cases, the disease can stop, as in that of astrophysicist Stephen Hawking, who survived with ALS for several decades.

“The disease affects the motor system and is characterized by the simultaneous involvement of upper and lower motor neurons. Although the existing epidemiological information in our country is limited to specialized centers, a multicenter and retrospective study carried out in the City of Buenos Aires showed an incidence of 1.04 cases per 100,000 inhabitants, and a prevalence of 3.25 per 100,000 inhabitants. These values ​​are similar to those reported internationally, and probably applicable to the rest of the Argentine population,” Dr. Ana Pardal, a neurologist at the British Hospital, an entity that this year inaugurated the Comprehensive Center for Rare Diseases (CIEPOF), told Infobae. first of its kind in the country, specializing in the detection and treatment of ALS, among other 8,000 rare pathologies.

ALS is a rare, neurodegenerative disease that atrophies the muscles of the body and causes respiratory failure.

The age of onset of the disease is between 45 and 70 years approximately, and the male gender is usually the most affected. The average time from the onset of symptoms and confirmation of the diagnosis is between 13 and 18 months. “90% of cases are sporadic in presentation and approximately 10% are familial. In 1993, the first cases of familial ALS associated with mutation in the SOD 1 gene were reported, however in recent years the application of new molecular genetic techniques has allowed the recognition of other variants, mainly in patients with a history of alterations. cognitive disorders or familial frontotemporal dementia,” explained Pardal.

World statistics indicate that there are 1 to 2 patients for every 100,000 inhabitants. In Argentina, there may be between 600 and 800 patients. In the man-woman relationship, 13 are seen for every ten. Furthermore, 30% to 50% of patients die within 3 years, but 10% are still alive after 10 years of disease.

ALS Treatments

Dr. Marcelo Rugiero, head of Adult Neurology at the Italian Hospital and member of the Argentine Neurological Society, explained to Infobae that it is a rare, neurodegenerative disease that atrophies the muscles of the body and generates respiratory failure. “For now there is no cure. There are only pharmacological and therapeutic treatments that delay the symptoms. There are some therapeutics that are approved, which means that we are close to correctly treating the complex disease that has many pathophysiological mechanisms. Today we know its genetics and pathology, which provides an advantage for clinical research,” said Rugiero.

“We are improving diagnosis time and patient care in recent years. The design of treatments is being improved through genetics that can mark the course and rhythm of this disease, or if it is associated with other neurodegenerative diseases such as Alzheimer’s or Parkinson’s. Argentina is a country with development in research protocols for serious clinical trials. And for example, there are one or two studies that are being carried out to learn about this disease,” added the expert.

World Day Against Amyotrophic Lateral Sclerosis
The drug AMX0035, known as the drug Albrioza, is a fixed-dose oral combination therapy that can reduce neuronal cell death.

“Despite there being no cure for ALS, there are currently pharmacological treatments with the drugs Riluzole and Edaravone with limited results that allow survival to be extended in some patients. Due to different complications derived from the disease, the presence of a multidisciplinary approach such as the management of nutritional and respiratory support and neurorehabilitation are essential”, explained Dr. Pardal from the British Hospital.

Alejandro Kohler, neurologist, specialist in neuromuscular diseases and coordinator of the Fleni ALS clinic, told Infobae that today within the pharmacological panorama there are disease modifiers and symptomatic ones to treat this heterogeneous disease.

“Most people have been taking Riluzole since it was approved by the FDA in 1994 to be taken twice a day. It slows down the disease by altering its progress. And it also increased overall survival by three months, according to several clinical studies. The drug decreases the toxicity of a neurotransmitter called glutamate, which damages upper motor neurons (located in the cerebral cortex) and lower motor neurons (located in the spinal cord and within the brainstem),” Kohler said.

And he added: “On the other hand we have the second drug: Edaravone, it is a more recent drug. It was approved by the FDA in 2017 and by ANMAT at the end of 2020. It is intravenous. Its application is more cumbersome. They are 28-day cycles, where the drug is received every 24 hours for 14 days. It is impractical to be applied and to generate adherence. This drug did not change survival, but showed almost a 5-point difference in those who received placebo, on the scale that measures 12 different variables on the progression of the disease in patients, such as being able to speak, move, write, etc. Now, the FDA approved Edaravone in oral form at the end of April, which is an advantage in terms of adherence to treatment. We must remember that patients can take both drugs since there is no risk of combination and the improvement may be greater”.

Kohler also indicated the existence of symptomatic treatments that seek to improve the symptoms produced by the disease. These do not modify the pathophysiological mechanisms that affect neurons in terms of weakness and spasticity (stiffness in the muscles). But they serve to control the symptoms that ALS generates.

“We found Baclofen and some cannabinoids, which are being studied to improve spasticity. Also, the combination of dextromethorphan and quinidine is used to treat emotional lability (PBA; a condition involving sudden and frequent bursts of crying or laughing that cannot be controlled) in people with ALS. There is also medication for cramps, excess saliva (the patient drools), muscle pain due to postural disorder, “said the specialist.

In recent days, some hopeful news for patients suffering from amyotrophic lateral sclerosis broke, when Canada approved a new drug for wide use.

The drug AMX0035, known as the drug Albrioza, is an oral, fixed-dose combination therapy that can reduce neuronal cell death as a stand-alone therapy or when added to existing treatments, according to a major scientific study published in both the New England Journal of Medicine, Muscle & Nerve, as in the Journal of Neurology, Neurosurgery and Psychiatry.

Based on medical research and according to the results of a phase 2 clinical trial, with phase 3 ongoing, the drug demonstrated a “statistically and clinically significant benefit” on functional outcomes in people with ALS compared to people who took placebo, either as a stand-alone therapy or when added to existing treatments.

“The combination of sodium phenylbutyrate and taurursodiol can reduce neuronal cell death, which is supposed to occur by simultaneously mitigating endoplasmic reticulum (ER) stress and mitochondrial dysfunction,” explain the scientists in charge of the study. The primary outcome was the rate of decline in Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R; range, 0 to 48, with higher scores indicating better function) total score over 24 weeks. explained doctors Sabrina Paganoni and Eric A. Macklin in the scientific publication.

The experts noted in their conclusions that sodium phenylbutyrate-taurursodiol resulted in slower functional decline than placebo, as measured by the ALSFRS-R score. But they cautioned that larger, longer trials are needed to assess the efficacy and safety of sodium phenylbutyrate-taurursodiol in people with ALS.

Non-pharmacological therapies

-Breathing care: Over time, you have more difficulty breathing as the muscles weaken. Doctors can check a patient’s breathing regularly and give him devices to help him breathe at night.

-Physiotherapy: A physical therapist can treat pain, gait, mobility, braces, and equipment needs that help maintain a patient’s independence. Practicing low-impact exercises can help maintain cardiovascular fitness, muscle strength, and range of motion for as long as possible. Regular exercise can also help improve feelings of well-being. Proper stretching relieves or prevents pain.

-Occupational therapy: An occupational therapist can help find ways to maintain independence despite weakness in the hands and arms. That person also provides tips for modifying your home to allow accessibility to places or things and patient safety.

-Talk therapy. A speech therapist can teach adaptive techniques to make the patient better understood when they speak. Speech therapists can also help explore other methods of communication, such as an alphabet board or pencil and paper.

-Nutritional support. The medical team will work with the patient and family members to ensure that they eat foods that are easier to swallow and that meet all of their nutritional needs.

-Psychological and social support. Psychologists, social workers, and others can provide emotional support to the patient and family.

Source: Infobae

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