Mavoglurant (AFQ-056) is an experimental drug candidate for the treatment of fragile X syndrome. It exerts its effect as an antagonist of the metabotropic glutamate receptor 5 (mGLU5).
Mavoglurant is under development by Novartis and is currently in Phase II and Phase III clinical trials. If successful, it would be the first drug to treat the underlying disorder instead of the symptoms of fragile X syndrome.
- P. Cole (2012). “Mavoglurant”. Drugs of the Future 37 (1): 7–12. doi:10.1358/dof.2012.37.1.1772147.
- Levenga, J; Hayashi, S; De Vrij, FM; Koekkoek, SK; Van Der Linde, HC; Nieuwenhuizen, I; Song, C; Buijsen, RA et al. (2011). “AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome”. Neurobiology of disease 42 (3): 311–7. doi:10.1016/j.nbd.2011.01.022. PMID 21316452.
- Jacquemont, S.; Curie, A.; Des Portes, V.; Torrioli, M. G.; Berry-Kravis, E.; Hagerman, R. J.; Ramos, F. J.; Cornish, K. et al. (2011). “Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome is Associated with Differential Response to the mGluR5 Antagonist AFQ056”. Science Translational Medicine 3 (64): 64ra1. doi:10.1126/scitranslmed.3001708. PMID 21209411.
- “AFQ056 drug improves symptoms in Fragile X patients: Study”. news-medical.net. January 9, 2011.
Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante’s syndrome (more commonly used in South American countries), is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and large testes (macroorchidism), and behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.
Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal (unaffected by the syndrome), a premutation (at risk of fragile X associated disorders), or full mutation (usually affected by the syndrome). A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counseling. The first complete DNA sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using SMRT sequencing.
There is currently no drug treatment that has shown benefit specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of attention deficit and hyperactivity, anxiety, and aggression. Supportive management is important in optimizing functioning in individuals with fragile X syndrome, and may involve speech therapy, occupational therapy, and individualized educational and behavioral programs.
orphan drug designation EMA
EU/3/12/1046: Public summary of opinion on orphan designation: Mavoglurant for treatment of fragile-X syndrome
Mavoglurant regulatory update 12/03/2012
ماووگلوران (به انگلیسی: Mavoglurant) یک ترکیب شیمیایی با شناسه پابکم ۹۹۲۶۸۳۲ است.
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