Around 65 million people around the world have epilepsy, the most common serious neurological condition. The disease is characterized by recurrent seizures, a type of unusual electrical activity in the brain.
Seizures vary greatly, from a brief lapse in attention or muscle jerk to severe and prolonged convulsions. Seizures can also vary in frequency, from less than one a year to several per day.
There are two main categories of seizure:
Focal seizures start in just one part of the brain.
Generalized seizures are the result of simultaneous abnormal activity in the whole of the brain.
There are many different types of epilepsy, and doctors have identified more than 100 different epilepsy syndromes. Each is characterized by specific signs and symptoms. Specific classification and delineation of the underlying cause are important, as they guide treatment and determine prognosis.
Many things can cause epilepsy, though it is not always clear. In fact, in around half of epilepsy cases are idiopathic, meaning the cause is unknown.
There are five general categories of epilepsy causes:
Infection: A number of different brain infections can cause epilepsy.
Structural causes: Abnormal structures in the brain can cause epilepsy and may be present at birth or acquired through an injury, brain tumor, stroke, or other cause.
Genetic causes: Epilepsy can be caused by genetic defects, which can be inherited or occur spontaneously.
Autoimmune epilepsy: Immune system reactions, such as antibodies targeting the brain, can cause epilepsy.
Metabolic causes: Problems with the enzymes that break down food in the body can result in epilepsy.
At ALL, we are driven to provide value and new solutions for patients and their families. We are committed to addressing the unmet needs of individuals and families living with a number of specific epilepsies.
In development we are investigating the potential of a novel rescue medication that may lead to rapid epileptic seizure terminations, as well as exploring the treatment of CDKL5 deficiency disorder, a rare developmental epileptic encephalopathy.
Our early research programs are investigating several new treatment modalities targeting disease mechanisms in specific epilepsies. We are also investing in our own gene therapy capabilities as well as pursuing other exciting external research collaborations to validate new potential therapeutic targets for epilepsy drug discovery (with Gliapharm) and for the discovery of small molecule therapeutics as potential treatments of KCNT1 related epilepsies (with Praxis).
While there are a number of treatments available to MG patients, many of these only offer symptomatic relief or are broad-acting, and some people living with MG do not respond well to them. 11 As a result, there is an urgent need to bring more targeted, well-tolerated treatment options that address the underlying mechanism of MG to physicians and patients.
People living with MG report frequent misdiagnoses and confusion related to their condition, reflecting the broad and often unpredictable symptoms experienced.13MG is most frequently misdiagnosed as 14 other conditions, including stress fibromyalgia and diabetes. 12 MG can lead to feelings of frustration and depression.13Amid these misdiagnoses, those with MG report contacting over 14 different specialists at some point in their care pathway highlighting the challenges that MG patients face to find care.13
ALL is focused on elevating the patient voice across all disease areas in which we work. We have worked alongside the patient community to conduct a patient-led analysis uncovering the reality of living with MG. 14 In this research, we partnered with a group of patients including the late Nancy Law – a former President of the Myasthenia Gravis Foundation of America (MGFA) and a patient expert.15 The analysis focused on the lived experience of MG, and identified gaps and areas in which care for the MG community could be improved.15This type of analysis is critical as few studies have explored the impact of living with MG from the patient perspective.