Pharmacotherapy for Fragile X Syndrome: Progress to Date
| Autor: | Tori L. Schaefer, Katherine Friedmann, Sarah E. Fitzpatrick, Craig A. Erickson, Matthew H. Davenport |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Symptomatic treatment Population Glutamic Acid Bioinformatics 03 medical and health sciences Fragile X Mental Retardation Protein 0302 clinical medicine Pharmacotherapy Medicine Animals Humans Pharmacology (medical) Psychiatry education gamma-Aminobutyric Acid education.field_of_study Clinical Trials as Topic business.industry Metabotropic glutamate receptor 5 Clinical study design Brain medicine.disease Fragile X syndrome 030104 developmental biology Drug development Metabotropic glutamate receptor Fragile X Syndrome business 030217 neurology & neurosurgery Signal Transduction |
| Zdroj: | Drugs. 76(4) |
| ISSN: | 1179-1950 |
| Popis: | To date, no drug is approved for the treatment of Fragile X Syndrome (FXS) although many drugs are used to manage challenging behaviors from a symptomatic perspective in this population. While our understanding of FXS pathophysiology is expanding, efforts to devise targeted FXS-specific treatments have had limited success in placebo-controlled trials. Compounds aimed at rectifying excessive glutamate and deficient gamma-aminobutyric acid (GABA) neurotransmission, as well as other signaling pathways known to be affected by Fragile X Mental Retardation Protein (FMRP) are under various phases of development in FXS. With the failure of several metabotropic glutamate receptor subtype 5 (mGlur5) selective antagonists under clinical investigation, no clear single treatment appears to be greatly effective. These recent challenges call into question various aspects of clinical study design in FXS. More objective outcome measures are under development and validation. Future trials will likely be aimed at correcting multiple pathways known to be disrupted by the loss of FMRP. This review offers a brief summary of the prevalence, phenotypic characteristics, genetic causes and molecular functions of FMRP in the brain (as these have been extensively reviewed elsewhere), discusses the most recent finding in FXS drug development, and summarizes FXS trials utilizing symptomatic treatment. |
| Databáze: | OpenAIRE |
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