Rett Syndrome

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

What is Rett Syndrome?

Rett Syndrome (RS) is a rare neurological disorder that primarily affects girls, causing severe cognitive, motor, and communication impairments. It is typically diagnosed in early childhood and is often marked by a loss of previously acquired skills.

On a Deeper Level

Rett Syndrome is a genetic disorder caused by mutations in the MECP2 gene located on the X chromosome. This gene plays a critical role in brain development, and its disruption leads to progressive neurological and developmental challenges. While it primarily affects girls, due to the protective effect of a second X chromosome, boys with MECP2 mutations often experience more severe outcomes. Rett Syndrome typically manifests between 6 and 18 months of age, following a period of apparently normal development. Children with Rett Syndrome gradually lose purposeful hand use and communication abilities and develop repetitive movements such as hand-wringing. The condition also affects breathing, sleep, and mobility, making lifelong care essential.

Signs & Symptoms

The hallmark signs and symptoms of Rett Syndrome include:

Loss of acquired skills: Regression in language, motor abilities, and social engagement.
Repetitive movements: Hand-wringing, clapping, or other stereotyped behaviors.
Breathing abnormalities: Hyperventilation, breath-holding, or irregular breathing patterns.
Gait abnormalities: Difficulty walking or loss of mobility over time.
Seizures: Occurring in up to 80% of individuals with Rett Syndrome.
Other symptoms: Growth retardation, scoliosis, and gastrointestinal issues.

The severity of symptoms can vary widely, but the condition profoundly impacts daily life.

How many are affected by this condition?

Prevalence

Rett Syndrome affects approximately 1 in 10,000 to 15,000 live female births globally. The condition is rare, but its impact is significant, requiring specialized care and comprehensive support for affected individuals and their families.

Insights and Data

Rett Syndrome affects approximately 1 in 10,000 to 15,000 live female births worldwide (National Institute of Neurological Disorders and Stroke, 2024).
Up to 80% of individuals with Rett Syndrome experience seizures, often requiring complex management strategies (Rett Syndrome Foundation, 2024).
Early diagnosis and intervention can improve outcomes, particularly in mobility, communication, and quality of life.

Our Approach

Anavex’s approach to Rett Syndrome is rooted in precision medicine and the activation of SIGMAR1 to restore cellular balance. By addressing the disruptions caused by MECP2 mutations, our therapies aim to reduce neurological dysfunction, improve motor and communication skills, and mitigate co-occurring symptoms such as seizures. We are committed to delivering innovative treatments that empower individuals with Rett Syndrome to achieve their fullest potential.

Clinical Progress

Anavex’s lead candidate, ANAVEX®2-73 (blarcamesine), is being investigated for its potential to treat Rett Syndrome by targeting the sigma-1 receptor (SIGMAR1). This mechanism has shown promise in preclinical and clinical studies, demonstrating improvements in neuronal function, communication abilities, and overall quality of life. Ongoing trials continue to explore its efficacy and safety in individuals with Rett Syndrome.

PRECLINICAL

PHASE 1

PHASE 2

PHASE 3

ANAVEX® 2-73 (Blarcamesine) ⭐️

An investigational therapy being studied for Alzheimer’s, Parkinson’s, and Rett syndrome.

Learn more

EXCELLENCE ANAVEX® 2-73-RS-003

AVATAR ANAVEX® 2-73-RS-002

U.S. ANAVEX® 2-73-RS-001