State-of-the-art therapies for fragile X syndrome
Dragana Protic 1 2, Randi Hagerman 3 4
- 1Department of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine University of Belgrade, Belgrade, Serbia.
- 2Fragile X Clinic, Special Hospital for Cerebral Palsy and Developmental Neurology, Belgrade, Serbia.
- 3Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, CA, USA.
- 4Department of Pediatrics, University of California, Davis School of Medicine, Sacramento, CA, USA.
Affiliationer
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a full mutation (> 200 CGG repeats) in the FMR1 gene. FXS is the leading cause of inherited intellectual disabilities and the most commonly known genetic cause of autism spectrum disorder. Children with FXS experience behavioral and sleep problems, anxiety, inattention, learning difficulties, and speech and language delays. There are no approved medications for FXS; however, there are several interventions and treatments aimed at managing the symptoms and improving the quality of life of individuals with FXS. A combination of non-pharmacological therapies and pharmacotherapy is currently the most effective treatment for FXS. Currently, several targeted treatments, such as metformin, sertraline, and cannabidiol, can be used by clinicians to treat FXS. Gene therapy is rapidly developing and holds potential as a prospective treatment option. Soon its efficacy and safety in patients with FXS will be demonstrated.
