Pharmaceutical Market Europe • March 2025 • 24-25

ALS DISEASE

ALS – innovative developments and investigational treatments

Healthcare experts highlight revolutionary technological developments in ALS care

By Romina Dibra

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Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that is extremely challenging not only for diagnosed individuals, but also for their families and the wider healthcare system.

Due to rapid onset and progression of symptoms, early detection and effective management are both critical. Some early signs of ALS may include muscle cramps in the arm, leg, shoulder or tongue, trouble walking, tripping and falling, weakness in the legs, arm or neck, slurred and nasal speech, and tight and stiff muscles (spasticity).  Later, ALS symptoms may include trouble chewing food and swallowing (dysphagia), unintentional loss of saliva from the mouth (drooling or sialorrhoea), trouble speaking or forming words, unintended crying, laughing or other emotional displays, constipation and trouble breathing (dyspnoea).

In advanced stages, people with ALS may lose the ability to stand, walk, independently get in and out of bed, use their hands and arms, or breathe without assistance. Since they typically retain the capacity to reason, remember and understand, they are aware of their gradual loss of function.

Although scientists are yet to develop a cure, recent technological advancements have made significant progress in the management of this complex disease. These innovations not only aim to enhance early diagnosis but also significantly improve quality of life and provide more effective, personalised treatments.

AI and machine learning for early ALS detection

Advances in AI algorithms have allowed for the analysis of complex medical data, such as neuroimaging and genetic profiling, to aid the early identification of ALS biomarkers.  AI technology can streamline the detection process by using machine learning models to process vast data sets and identify patterns that are not immediately visible to the human eye.

In addition, AI tools are being developed to monitor changes in speech patterns – often one of the earliest symptomatic signs of ALS – representing yet another instance where AI can help detect changes and support earlier diagnoses. Using deep learning to assess voice and speech dynamics, it is possible to detect early motor neuron damage before more advanced symptoms appear.

Next to detection, machine learning techniques are being used to analyse patient data and create predictive models that forecast disease progression. This can enable clinicians to create more personalised treatment plans and help the biopharma industry to more effectively build clinical trial designs. The ability to forecast a disease’s trajectory is crucial to allow for more targeted therapies and earlier inventions, with the aim of slowing down disease progression and improving patient outcomes.

Assistive technologies: enhancing quality of life

While early diagnosis is crucial, technology is also playing a large part in improving patients’ quality of life. In recent years, advanced mobility aids have been developed to assist mobility for ALS patients, such as prosthetics, powered exoskeletons and wheelchairs equipped with smart sensors. These devices can be customised to the specific needs of the individual, providing support as muscle strength diminishes.

As ALS progresses, communication abilities are hugely impacted and many lose their ability to speak entirely. However, recent innovations in eye-tracking technology, speech-generating devices and brain-computer interfaces now allow patients to communicate effectively by utilising residual motor functions or cognitive abilities.  These tools not only help with communication, but in doing so help to improve emotional well-being, reduce social isolation and overall improve patients’ quality of life by restoring a means of communication for them.

When it comes to technological living advances, the integration of home automation systems has played a pivotal role in improving independence and safety for patients.  Smart home technologies, such as remote light activators, door locks and appliances, can increase independence by reducing the physical effort required for daily tasks. Combining these systems with wearable sensors and AI tools can also help caregivers to monitor patients’ health in real-time and adjust home environments to meet their evolving needs.

Telemedicine bridges gaps

Remote telehealth platforms that allow individuals with ALS and similar neurodegenerative diseases to consult with doctors and specialists from the comfort of their own homes have become a helpful enabler for care of diseases that limit mobility. This can be particularly beneficial for patients with mobility challenges who may find it difficult to travel to medical centres for appointments.

In addition to consultations, wearable devices that track vital signs such as respiratory function, heart rate and motor activity can transmit real-time data to healthcare providers. This continuous monitoring enables clinicians to detect complications early and adjust treatment plans quickly, reducing the need for frequent hospital visits. By providing a stream of accurate data, there may be a reduced need for emergency hospital visits, ensuring that patients can receive timely interventions without unnecessary stress.

Telemedicine also plays a crucial role in coordination of care and treatment. ALS is a complex and multifaceted illness that requires input from a wide range of healthcare professionals (HCPs), including neurologists, physical therapists, speech therapists and nutritionists, who can now all track patient statuses and provide them with support via a centralised telehealth platform.

Lastly, online patient communities, caregiver networks and patient advocacy groups are also available to provide mental health and peer support, giving invaluable support for those dealing with long-term, degenerative diseases like ALS.

Investigational treatments for ALS

Developing new treatments for ALS is challenging, partly because the disease varies so much between individuals. Investigational treatments for ALS focus primarily on slowing disease progression, protecting motor neurons and targeting specific mechanisms that drive the disease. Some of the treatments currently being explored in ALS clinical trials or preclinical studies include:

Small molecules
Small molecules are simple chemical substances that can easily enter the body’s cells due to their size, making them versatile tools for targeting various biological processes. Different types of small molecules are being investigated in ALS clinical trials with the aim of targeting several key aspects involved in ALS, including:

  • Reducing damage caused by excess of glutamate
  • Lower harmful stress on cells
  • Reduce inflammation of the brain and spinal cord system
  • Help cells eliminate toxic waste products that contribute to neuron damage.

Gene-specific therapies
Gene-specific therapies are designed for individuals with identified genetic mutations associated with ALS and are not intended for cases of sporadic ALS. In these individuals, specific mutations can lead to the production of harmful proteins that damage motor neurons and contribute to disease progression.

One of these genetic-specific approaches involves the use of antisense oligonucleotides (ASOs), synthetic molecules that block the formation of these harmful proteins with the objective of protecting motor neurons from damage. The first approved ASO is the medicine tofersen, specially designed for people with an ALS SOD1 mutation. Other ASOs are being studied in clinical trials for different mutations.

Immunotherapy
Immunotherapy involves the treatment of a disease by stimulating or suppressing an immune response. In ALS, one form of immunotherapy involves the use of antibodies, which are special proteins designed to target and block harmful substances in the body. Researchers are exploring whether antibodies and other immunotherapies could slow disease progression by reducing inflammation, restoring the balance of certain proteins
that protect nerve cells, or addressing specific genetic factors associated with ALS. These investigational therapies are currently being tested in ALS clinical trials.

Stem cell therapies
Stem cells are special cells in the body that can transform into different types of cells, such as muscle cells or brain cells, depending on where they are in the body and the signals they receive. These qualities make them of interest for researchers to treat different types of conditions. In the field of ALS, researchers are exploring how stem cells might be used to generate healthy neurons to replace those damaged or destroyed by the disease. This investigational ALS treatment is currently being studied in clinical trials.

The future of ALS care

Although clinical research for potential treatments is ongoing, the intersection of AI, machine learning, assistive technologies and telemedicine is transforming ALS care in profound ways. By enabling earlier detection, personalised treatment and enhanced support systems, these innovations aim to improve both the quality of life and care for individuals living with ALS.

The ongoing development of advanced technologies into both ALS treatment and research signals a new era of care where the focus is not only on extending life, but also on enhancing the dignity and independence of individuals affected by this disease.

References are available on request.


Romina Dibra is Senior EAP (Expanded Access Programme) Site Manager at MyTomorrows, a global healthtech company

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