About Fragile X Syndrome

Fragile X syndrome is the most common inherited cause of autism and intellectual disabilities, affecting approximately 1 in 4,000 males and 1 in 6,000 females. Symptoms range in severity and can include:

  1. intellectual disabilities
  2. attention deficit and hyperactivity, particularly in young children
  3. anxiety and unstable mood
  4. autistic behaviors
  5. sensory integration problems, such as hypersensitivity to loud noises or bright lights
  6. speech delay
  7. seizures

Physical features associated with fragile X syndrome can be subtle and difficult to identify and diagnose accurately, especially in younger children. Symptoms typically become more prominent with age. Physical features common in people with fragile X syndrome include:

  1. long face, large prominent ears, flat feet
  2. hyperextensible joints, especially fingers
  3. low muscle tone

Many aspects of life can be challenging for families affected by fragile X syndrome. Patients who experience hyperarousal may easily become fearful and anxious when overwhelmed, leading to aggressive or antisocial behavior. Patients in this state often find it difficult to communicate verbally, which can exacerbate the behavior. In many cases families must adjust their routines to avoid situations that cause stress or lead to antisocial behaviors in patients who have sensory integration or behavioral problems. Families must also plan for long-term care involving both drug therapies as well as a range of support services. Many fragile X syndrome adults cannot live independently or work due to intellectual and physical disability.

There are currently no approved drugs indicated for treatment of fragile X syndrome. Many patients are treated with therapies to help manage symptoms including ADHD, aggression and anxiety. In addition, where available, patients often participate in special education classes, speech and physical therapy and customized training in social behavior and life skills. In light of the potentially significant disease burden, an effective therapy for fragile X syndrome could have a profoundly positive impact on the lives of patients, caregivers and healthcare systems.



Development & Clinical Trial Update

AMO is planning to initiate a phase 1B/2A clinical study for AMO-01 for the treatment of fragile X syndrome. Please check back for more clinical trial information.



Fragile X Syndrome

There are several organizations working to address the needs of individuals and families affected by fragile X syndrome with information and support services, including:

FRAXA Research Foundation
http://www.fraxa.org

National Fragile X Foundation
https://fragilex.org

Autism Speaks
https://www.autismspeaks.org

Organization for Autism Research
http://www.researchautism.org


Reference:
Coffee, Bradford et al. "Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA." Am J Human Genet 85.4 (2009): 503–514. PMC. Web. 17 Feb. 2016