New Targeted Treatments for Fragile X Syndrome

Protić, Dragana; Salcedo-Arellano, María Jimena; Dy, Jeanne Barbara; Potter, Laura A.; Hagerman, Randi J.

doi:10.2174/1573396315666190625110748

Cited by 37 publications

(67 citation statements)

References 79 publications

(92 reference statements)

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“…The ongoing research on targeted treatment for FXS has shown some medications that are currently available for clinical use, such as metformin, minocycline, and sertraline. Some promising targeted treatments are still in clinical trials, including cannabidiol, ganaxolone, gaboxadol, arbaclofen, and mavoglurant, among others (31,32). Research conducted on children with FXS treated with metformin showed improvements in language development and behavior, such as mood instability and aggressive behavior in most patients (33).…”

Section: Management Of Fxs In Indonesiamentioning

confidence: 99%

Surveillance and prevalence of fragile X syndrome in Indonesia

Sihombing

Winarni

Utari

et al. 2021

IRDR

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fragile X syndrome, intellectual disability, genetic screening, cascade testing Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disability (ID) and autism spectrum disorder (ASD). Many studies have been conducted over the years, however, in Indonesia there is relatively less knowledge on the prevalence of FXS. We reviewed all studies involving FXS screening and cascade testing of the high-risk population in Indonesia for two decades, to elucidate the prevalence, as well as explore the presence of genetic clusters of FXS in Indonesia. The prevalence of FXS in the ID population of Indonesia ranged between 0.9-1.9%, while in the ASD population, the percentage was higher (6.15%). A screening and cascade testing conducted in a small village on Java Island showed a high prevalence of 45% in the ID population, suggesting a genetic cluster. The common ancestry of all affected individuals was suggestive of a founder effect in the region. Routine screening and subsequent cascade testing are essential, especially in cases of ID and ASD of unknown etiology in Indonesia.

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Section: Management Of Fxs In Indonesiamentioning

confidence: 99%

Surveillance and prevalence of fragile X syndrome in Indonesia

Sihombing

Winarni

Utari

et al. 2021

IRDR

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“…23 Therefore, minocycline is well tolerated but requires clinical monitoring and testing for ANA and liver function. 24…”

Section: Minocyclinementioning

confidence: 99%

“…Additionally, since there are multiple pathways involved in FXS pathogenesis, a combination of medications or medications targeting multiple pathways could be more beneficial 24 . Trials involving medication and non-pharmacological interventions such as Parent Implemented Language Intervention (PILI) could also be more sustainable and beneficial.…”

Section: Challenges In the Search For A Targeted Treatment In Fxsmentioning

confidence: 99%

Fragile X Syndrome and Targeted Treatments

Tassanakijpanich

Cabal-Herrera²,

Salcedo-Arellano

et al. 2020

J. Biomed. Transl. Res.

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Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies. Here we review the many medications that have been studied in patients with FXS and some of these medications are available for clinical use by wise clinicians. Other medications are not currently available by prescription because they are not approved by the FDA. No medication has received specific approval for treatment of FXS, although some have shown benefit from clinical studies. There is much to be done in the treatment of those with FXS and this report describes those pharmacological treatments that target the neurobiological mechanisms that are dysregulated by the lack of the Fragile X Protein (FMRP) in those with FXS.

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“…This hyperexcitability seems to be the result of an enhanced long-term depression (LTD) and reduced long-term potentiation (LTP), the contribution of both mechanisms being different according to brain regions [ 34 ]. In some patients, the absence of FMRP may also affect other classic neurochemicals pathways, including the dopaminergic, cholinergic and serotonergic-mediated pathways [ 35 , 36 ].…”

Section: Introductionmentioning

confidence: 99%

An “Omic” Overview of Fragile X Syndrome

Dionne

Corbin

2021

Biology

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Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its encoded protein, FMRP (fragile X mental retardation protein). FMRP is a ubiquitously expressed and multifunctional RNA-binding protein, primarily considered as a translational regulator. Pre-clinical studies of the past two decades have therefore focused on this function to relate FMRP’s absence to the molecular mechanisms underlying FXS physiopathology. Based on these data, successful pharmacological strategies were developed to rescue fragile X phenotype in animal models. Unfortunately, these results did not translate into humans as clinical trials using same therapeutic approaches did not reach the expected outcomes. These failures highlight the need to put into perspective the different functions of FMRP in order to get a more comprehensive understanding of FXS pathophysiology. This work presents a review of FMRP’s involvement on noteworthy molecular mechanisms that may ultimately contribute to various biochemical alterations composing the fragile X phenotype.

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New Targeted Treatments for Fragile X Syndrome

Cited by 37 publications

References 79 publications

Surveillance and prevalence of fragile X syndrome in Indonesia

Surveillance and prevalence of fragile X syndrome in Indonesia

Fragile X Syndrome and Targeted Treatments

An “Omic” Overview of Fragile X Syndrome

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