Developing a blood test for ALS

Amyotrophic lateral sclerosis (ALS).

ALS or Lou Gehrig's disease is a neurodegenerative disease - an irreversible process. The famous physicist and popular science writer Stephen Hawking has ALS, but his was one of the rare case where the patient survives after the disease onset and live a long life. For most patients, the life expectancy is about 5 years. Unfortunately, there is not many therapeutic options available to slow the disease progression significantly. The number of people living with ALS in the US is about 5 to 7 cases per 100,000 or ~20,000, with approximately 5,000 new cases reported every year. 

Challenges: diagnosis and treatment.

Diagnosis is the first step in managing any medical condition; but no diagnostic tests is available till date for the detection of ALS. A late-stage patient is often identified by clinical assessment and at that stage, disease management becomes extremely challenging or impossible. For other patients, clinical assessment results into massive misdiagnosis rate (up to 50%) and often a patient has to go through a long list of lab processes, starting from blood test, imaging to genetic testing and muscle biopsy. For many ALS patients, this method of elimination becomes infeasible due to restrained mobility, physical discomfort and financial constraints. More importantly, this strategy could delay a diagnosis by up to 2 years, which is beyond critical considering the average life expectancy of 5 years for 90% of the ALS patients. But why focus on diagnosis when so few treatment options are available? The answer lies in knowing how ALS clinical trials are conducted and their challenges.      

ALS clinical trials success depends on accurate diagnosis.

The progress toward successful clinical trials in any neurodegenerative disease space heavily depends on efficient patient inclusion (true ALS patients) and accurate monitoring (staging). In earlier interviews with KOLs and senior scientists from various biotech companies have revealed that the current monitoring based on the ALS functional rating scale (ALSFRS) is volatile and often, inconclusive.  

Unmet need: early + accurate diagnosis.

ALS or Lou Gehrig's disease is a neurodegenerative disease - which means that the disease progression is irreversible. The famous physicist and popular science writer Stephen Hawkins has ALS, but he was one of rare cases where the patient survived a long life. For most patients, the life expectancy is about 5 years. Unfortunately, there is not many therapeutic options available to slow the disease progression significantly. The number of people living with ALS in the US is about 5 to 7 cases per 100,000 or 17,500 to 24,500 cases considering a population of 350 million. However, 

Blood test development.

ALS or Lou Gehrig's disease is a neurodegenerative disease - which means that the disease progression is irreversible. The famous physicist and popular science writer Stephen Hawkins has ALS, but he was one of rare cases where the patient survived a long life. For most patients, the life expectancy is about 5 years. Unfortunately, there is not many therapeutic options available to slow the disease progression significantly. The number of people living with ALS in the US is about 5 to 7 cases per 100,000 or 17,500 to 24,500 cases considering a population of 350 million. However, 

Blood test development.

ALS or Lou Gehrig's disease is a neurodegenerative disease - which means that the disease progression is irreversible. The famous physicist and popular science writer Stephen Hawkins has ALS, but he was one of rare cases where the patient survived a long life. For most patients, the life expectancy is about 5 years. Unfortunately, there is not many therapeutic options available to slow the disease progression significantly. The number of people living with ALS in the US is about 5 to 7 cases per 100,000 or 17,500 to 24,500 cases considering a population of 350 million. However, 

What next?

ALS or Lou Gehrig's disease is a neurodegenerative disease - which means that the disease progression is irreversible. The famous physicist and popular science writer Stephen Hawkins has ALS, but he was one of rare cases where the patient survived a long life. For most patients, the life expectancy is about 5 years. Unfortunately, there is not many therapeutic options available to slow the disease progression significantly. The number of people living with ALS in the US is about 5 to 7 cases per 100,000 or 17,500 to 24,500 cases considering a population of 350 million. However,