ALLMedicine™ Fragile X Syndrome Center
Research & Reviews 1,105 results
https://doi.org/10.1177/17446295221095712
Journal of Intellectual Disabilities : JOID; Corti C, Oldrati V et. al.
May 19th, 2022 - Increased attention is arising on the delivery of remote cognitive interventions, which allow performing exercises in everyday settings, favouring rehabilitation continuity. The present study offers an overview of remote cognitive training program...
https://doi.org/10.1093/stcltm/szac022
Stem Cells Translational Medicine; Zhang A, Sokolova I et. al.
May 14th, 2022 - Fragile X Syndrome (FXS), the leading monogenic cause of intellectual disability and autism spectrum disorder, is caused by expansion of a CGG trinucleotide repeat in the 5'-UTR of the Fragile X Mental Retardation-1 (FMR1) gene. Epigenetic silenci...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9103116
BMC Medicine; Javadi S, Li Y et. al.
May 14th, 2022 - Fragile X syndrome (FXS), the most prevalent inherited intellectual disability and one of the most common monogenic forms of autism, is caused by a loss of fragile X messenger ribonucleoprotein 1 (FMR1). We have previously shown that FMR1 represse...
https://doi.org/10.1097/YCT.0000000000000862
The Journal of ECT; Baroud E, Bond JB et. al.
May 11th, 2022 - Safe Administration of Electroconvulsive Therapy in a Patient With Catatonia and Neuropsychiatric Lupus Comorbid With Fragile X Syndrome.|2022|Baroud E,Bond JB,Lucarelli J,Olusunmade M,Henry ME,|
https://clinicaltrials.gov/ct2/show/NCT05367960
May 10th, 2022 - This is an open-label extension (OLE) study for subjects completing one of two double-blind clinical trials with BPN14770, Study BPN14770-CNS-301(in adult males) and Study BPN14770-CNS-204 (in adolescent males). The primary objective of this OLE i...
Guidelines 1 results
https://doi.org/10.1038/gim.2013.61
Genetics in Medicine : Official Journal of the American C... Monaghan KG, Lyon E et. al.
Jun 15th, 2013 - Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document prov...
Clinicaltrials.gov 26 results
https://clinicaltrials.gov/ct2/show/NCT05367960
May 10th, 2022 - This is an open-label extension (OLE) study for subjects completing one of two double-blind clinical trials with BPN14770, Study BPN14770-CNS-301(in adult males) and Study BPN14770-CNS-204 (in adolescent males). The primary objective of this OLE i...
https://clinicaltrials.gov/ct2/show/NCT04044781
Jan 10th, 2022 - This is a sponsor initiated, single site, first-in-human study of an investigational imaging agent for quantifying the topographically specific concentrations of the phosphodiesterase enzyme Type 4D (PDE4D) with positron emission tomography (PET) ...
https://clinicaltrials.gov/ct2/show/NCT02998151
Nov 26th, 2021 - The aim of this study is to utilize neurophysiologic assessments, behavioral measures and clinical measures to assess how much deficits associated with Fragile X Syndrome from pre-dose to post-dose using pharmacology.
https://clinicaltrials.gov/ct2/show/NCT05030129
Sep 1st, 2021 - This single-center, Phase 2, single-blind, 4-period sequential study will obtain a preliminary assessment of the effects of Ergoloid mesylates (EM) 1 mg TID and 5-hydroxytryptophan (5-HTP) 100 mg TID and the combination compared to a placebo perio...
https://clinicaltrials.gov/ct2/show/NCT04909658
Jun 2nd, 2021 - Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental disorder characterized by core deficits in maladaptive behaviors, communication skills, and self-regulation im-pairments affecting the socio-relational performance of children, but al...
News 33 results
https://www.medscape.com/viewarticle/971694
Apr 6th, 2022 - A new study suggests that overgrowth of the amygdala in infants during the first 6 to 12 months of life is tied to a later diagnosis of autism spectrum disorder (ASD). "The faster the amygdala grew in infancy, the more social difficulties the chil...
https://www.medscape.com/viewarticle/970530
Mar 18th, 2022 - Neurological disorders can be some of the most difficult conditions to diagnose. Symptoms are similar for multiple different conditions and sometimes they vary a lot between patients, which can make diagnosis hard to pinpoint. Delays means that in...
https://www.medscape.com/viewarticle/966894
Jan 20th, 2022 - (Reuters Health) - Fragile X syndrome may be underdiagnosed, particularly among women, a U.S. study suggests. Researchers examined electronic health record data for 1.7 million patients seen over approximately 40 years at the Marshfield Clinic Hea...
https://tools.cdc.gov/medialibrary/index.aspx#/media/id/333027
Fragile X syndrome might not be what you think. See if you can separate fact from fiction.
https://www.reuters.com/article/us-zynerba-pharms-study/zynerbas-cannabis-based-drug-for-rare-genetic-disorder-fails-study-idUSKBN2411Q2
Jun 30th, 2020 - (Reuters) - Zynerba Pharmaceuticals Inc said on Tuesday its experimental cannabis-based gel Zygel was not statistically significant in improving aberrant behavior when compared to a placebo in patients with a neurological disorder called Fragile X...