Amyotrophic Lateral Sclerosis (ALS)

Introduction

Every 90 minutes, someone is diagnosed with Amyotrophic Lateral Sclerosis (ALS) worldwide and another person loses their life to it. Also known as Lou Gehrig's disease, ALS is a devastating neurodegenerative disorder that progressively destroys motor neurons in the brain and spinal cord. As these neurons deteriorate, they can no longer transmit signals to muscles, leading to weakness, paralysis and eventually respiratory failure.

While eye muscles, sphincter control and skin sensitivity often remain intact, patients gradually lose the ability to move, speak, swallow and breathe on their own. Behind the science lies a human reality: ALS steals independence step by step, leaving patients and families with few options.

Why Early Diagnosis Matters

There is no cure for ALS. Current therapies can only modestly slow disease progression and only improve quality of life if started early. Unfortunately, ALS is often diagnosed late, after months of symptom progression and irreversible neuronal loss.

This delay drastically limits treatment options and narrows the window for therapeutic intervention. An early, reliable and accessible diagnostic tool could:

• Enable faster treatment and better patient care.
• Increase enrollment in clinical trials.
• Provide families with crucial time to prepare and adapt.

In short, early detection doesn't just buy time, it opens doors to therapies, research opportunities and better outcomes.

Prevalence and Trends

ALS is considered rare, but its impact is far-reaching. Each year, approximately 1.68 individuals per 100,000 are diagnosed globally. Prevalence varies: populations of European origin, particularly in Europe, North America and New Zealand, show the highest rates (up to 2.6 to 3 cases per 100,000), while East and South Asia report lower incidence.

Looking ahead, the global burden of ALS is expected to rise sharply from 2015 until 2040, largely due to aging populations. This demographic shift highlights an urgent need for scalable diagnostic tools that can keep pace with future healthcare demands.

Risk Factors

ALS most commonly develops between the ages of 55 and 75, with men at slightly higher risk. About 90 to 95% of cases are sporadic, while 10% are familial and linked to genetic mutations in C9orf72, SOD1, TARDBP and FUS.

Environmental factors such as pesticide exposure, heavy metals, cyanotoxins and head trauma have also been associated with onset. This interplay between genetics and environment makes ALS highly unpredictable reinforcing the need for early detection strategies that work across diverse populations.

Healthcare Burden

Beyond the human toll, ALS imposes major economic and healthcare costs. In Spain, the direct annual cost per patient is estimated at €5,158, significantly higher than Alzheimer's (€3,647) which is the most prevalent neurodegenerative disease. In Germany, lifetime costs can reach €246,184 per patient.

The disease demands extensive support such as mobility aids, communication devices, respiratory assistance, placing a heavy burden on families and healthcare systems alike. A cost-effective, scalable diagnostic tool could help reduce these expenses while improving patient outcomes.

Current Diagnosis: A Gap in the System

Today, ALS is diagnosed by exclusion. Physicians rely on clinical history, neurological examinations and tests such as electromyography (EMG), nerve conduction studies, MRI and sometimes, muscle biopsies.

The problem? Early symptoms including muscle twitches, cramps, slurred speech and swallowing difficulties overlap with other neurological disorders, leading to an average diagnostic delay of 12 to 18 months. For patients, every month lost means more irreversible motor neuron damage.

Most critically, there is no single biomarker in the market that can reliably detect ALS at its earliest stages. This diagnostic gap is both a challenge and an opportunity for innovation.

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