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Fragile X Syndrome

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

What is Fragile X Syndrome?

Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and developmental delays. It is a genetic condition that affects learning, behavior, and social interactions, often presenting alongside physical and emotional challenges.

On a Deeper Level

Fragile X Syndrome is a genetic disorder caused by a mutation in the FMR1 gene located on the X chromosome. This mutation prevents the production of a protein called FMRP, which is essential for normal brain development and functioning. As a result, individuals with FXS experience a range of cognitive, behavioral, and physical challenges. FXS typically manifests in early childhood, with delayed speech and motor milestones being some of the first noticeable signs. The condition affects both males and females, but males often experience more severe symptoms due to the single X chromosome. While there is no cure for Fragile X Syndrome, early intervention and tailored support can significantly improve outcomes for individuals and their families.

Signs & Symptoms

The signs and symptoms of Fragile X Syndrome vary in severity but commonly include:

  • Cognitive challenges: Learning disabilities and difficulties with problem-solving.
  • Behavioral issues: Hyperactivity, anxiety, and sensory sensitivities.
  • Social difficulties: Shyness, difficulty maintaining eye contact, and challenges with social interactions.
  • Physical features: Prominent ears, a long face, and flexible joints.
  • Speech and language delays: Delayed onset of speech and repetitive speech patterns.

These symptoms often co-occur with other conditions, such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD).

How many are affected by this condition?

Prevalence

Fragile X Syndrome affects approximately 1 in 4,000 males and 1 in 8,000 females worldwide. It is the most common single-gene cause of autism spectrum disorder and intellectual disability, making it a significant concern for families, educators, and healthcare providers.

Insights and Data

  • Fragile X Syndrome is the most common inherited cause of intellectual disability, affecting 1 in 4,000 males and 1 in 8,000 females globally (CDC, 2024).
  • Approximately 30-50% of individuals with Fragile X Syndrome also meet the criteria for autism spectrum disorder (National Fragile X Foundation, 2024).
  • Early intervention can improve developmental outcomes, particularly in language, motor skills, and social interactions.

Our Approach

Our approach to Fragile X Syndrome leverages precision medicine to target the root causes of the disorder. By activating SIGMAR1, we aim to restore cellular balance, improve synaptic function, and address the neurobiological mechanisms that lead to cognitive and behavioral challenges. Anavex’s focus is on delivering therapies that improve quality of life and support individuals in reaching their full potential.

Clinical Progress

Anavex is actively exploring the potential of sigma-1 receptor (SIGMAR1) activation to address the symptoms of Fragile X Syndrome. Preclinical studies have demonstrated that SIGMAR1 modulation can enhance neural plasticity, reduce anxiety, and improve cognitive function. These findings represent a promising step toward developing targeted therapies for FXS, and we are working to advance these treatments into clinical trials.

PRECLINICAL

PHASE 1

PHASE 2

PHASE 3

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

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  • ⭐️ = Orphan Drug Designation by FDA
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