Infantile Spasms

Advancing groundbreaking therapies to tackle the challenges of neurodegenerative and rare conditions.

What is Infantile Spasms?

Infantile spasms are a rare and severe form of epilepsy that typically begin in infancy. These spasms are characterized by sudden, jerking movements and are often accompanied by developmental delays and abnormal brain wave patterns, requiring immediate medical attention.

On a Deeper Level

Infantile spasms, also known as West syndrome, are a type of epileptic seizure disorder that usually presents within the first year of life, typically between 4 and 8 months of age. This condition is marked by clusters of brief but severe spasms, often occurring when a child is waking up or falling asleep. The spasms can cause the child to bend forward at the waist or extend their arms and legs suddenly. The condition is closely linked to abnormal brain activity, often visible on an electroencephalogram (EEG) as hypsarrhythmia, a chaotic and disorganized pattern. Infantile spasms are frequently associated with underlying neurological disorders, such as tuberous sclerosis, genetic abnormalities, or brain injury. Early diagnosis and intervention are critical to preventing long-term developmental impairments.

Signs & Symptoms

The hallmark signs and symptoms of infantile spasms include:

Clusters of spasms: Sudden, jerking movements that may involve the head, arms, and legs.
Developmental regression: Loss of previously acquired skills, such as babbling or sitting up.
Irritability: Increased fussiness or difficulty consoling the child.
Abnormal EEG patterns: Hypsarrhythmia, a disorganized brain wave pattern unique to infantile spasms.

These symptoms can lead to severe developmental delays if not treated promptly.

How many are affected by this condition?

Prevalence

Infantile spasms are rare, affecting approximately 1 in 2,000 to 4,000 live births. While the condition is uncommon, it represents a significant proportion of epilepsy cases in infants and young children. The prognosis varies based on the underlying cause, but early treatment can improve outcomes in many cases.

Insights and Data

Infantile spasms affect approximately 1 in 2,000 to 4,000 live births globally (Epilepsy Foundation, 2024).
Around 70% of children with infantile spasms have an identifiable underlying cause, such as tuberous sclerosis or genetic abnormalities (National Institute of Neurological Disorders and Stroke, 2024).
Early treatment with antiepileptic therapies can significantly improve developmental outcomes.

Our Approach

Anavex’s approach to infantile spasms involves targeting the neurobiological mechanisms underlying the condition. By activating SIGMAR1, our therapies aim to modulate disrupted neural pathways, reduce abnormal brain activity, and prevent further neurological decline. Our strategy emphasizes early intervention to minimize developmental regression and maximize the potential for a brighter future for children with this condition.

Clinical Progress

Anavex is exploring the potential of its proprietary therapeutic candidates to address infantile spasms. By targeting the sigma-1 receptor (SIGMAR1), our approach focuses on restoring neuronal balance, reducing inflammation, and protecting against further brain damage. Preclinical studies have shown encouraging results, and we are working to translate these findings into clinical trials that offer hope for affected families.

PRECLINICAL

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ANAVEX® 2-73 (Blarcamesine) ⭐️

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