Zynerba initiates late-stage study of potential treatment for fragile X syndrome
The rare condition is the most common known single-gene cause of autism spectrum disorder. (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - September 13, 2021 Category: American Health Authors: John George Source Type: news

What Are Some Etiologies for Intellectual Disability?
Discussion “Intellectual disability (ID) is a neurodevelopmental disorder that is characterized by deficits in both intellectual functioning and adaptive function whose onset is in the development period.” Global developmental delay (GDD) is used to describe children from 0-5 years old with significant delays in 2 or more developmental areas. These delays may be transient but up to 2/3 of children with GDD will have ID. Overall 1-3% of the general population has ID which makes it very common. Most children with GDD/ID are identified because of delays in meeting milestones or general academic achievement. ID pat...
Source: PediatricEducation.org - May 3, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

An Alzheimer's Drug May Boost Cognition In People With Fragile X Syndrome
An experimental medicine seems to ease symptoms of Fragile X syndrome, a genetic disorder that is the most common inherited cause of intellectual disabilities and autism.(Image credit: Richard J. Green/Science Source) (Source: NPR Health and Science)
Source: NPR Health and Science - April 30, 2021 Category: Consumer Health News Authors: Jon Hamilton Source Type: news

Genome-editing tool TALEN outperforms CRISPR-Cas9 in tightly packed DNA
(University of Illinois at Urbana-Champaign, News Bureau) Researchers used single-molecule imaging to compare the genome-editing tools CRISPR-Cas9 and TALEN. Their experiments revealed that TALEN is up to five times more efficient than CRISPR-Cas9 in parts of the genome, called heterochromatin, that are densely packed. Fragile X syndrome, sickle cell anemia, beta-thalassemia and other diseases are the result of genetic defects in the heterochromatin. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 27, 2021 Category: International Medicine & Public Health Source Type: news

Zynerba provides progress report on its potential Fragile X syndrome therapy
Zynerba Pharmaceuticals, a developer of synthetic and transdermal cannabinoid therapies for rare neuropsychiatric disorders, said Thursday it expects to begin a "pivotal" late-stage clinical trial of its experimental Fragile X syndrome therapy Zygel late next year. The leaders of the 13-year-old Devon company said they believe positive results from the trial, to confirm previous study results, would be sufficient to support the submission of a new drug application for Zygel to treat Fragile X. Zynerba's… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - December 17, 2020 Category: Biotechnology Authors: John George Source Type: news

New drug moves closer to becoming first treatment for Fragile X Syndrome
(University at Buffalo) A new drug discovered through a research collaboration between the University at Buffalo and Tetra Therapeutics took a major step toward becoming a first-in-class treatment for Fragile X Syndrome, a leading genetic cause of autism. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 11, 2020 Category: International Medicine & Public Health Source Type: news

What Causes Fragile X Syndrome?
Title: What Causes Fragile X Syndrome?Category: Diseases and ConditionsCreated: 11/21/2020 12:00:00 AMLast Editorial Review: 11/21/2020 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - November 21, 2020 Category: Pediatrics Source Type: news

Fish give insight on sound sensitivity in autism
(University of Queensland) Scientists at The University of Queensland used zebrafish that carry the same genetic mutations as humans with Fragile X syndrome and autism, and discovered the neural networks and pathways that produce the hypersensitivities to sound in both species. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 10, 2020 Category: International Medicine & Public Health Source Type: news

Bullying victimization in young females with fragile-X-syndrome - Joga-Elvira L, Jacas C, Joga ML, Roche-Mart ínez A, Brun-Gasca C.
The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological asses... (Source: SafetyLit)
Source: SafetyLit - September 21, 2020 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news

Yale researchers find a cause and possible treatment for Fragile X
Fragile X syndrome — a disorder of the X chromosome — is the leading cause of autism and the primary genetic driver of intellectual disability. (Source: Yale Science and Health News)
Source: Yale Science and Health News - September 3, 2020 Category: Universities & Medical Training Source Type: news

Examining the specificity of forms and functions of aggressive behavior in boys with fragile X syndrome - Britton TC, Wilkinson EH, Hall SS.
Limited information is available concerning the specificity of the forms and functions of aggressive behavior exhibited by boys with fragile X syndrome (FXS). To investigate these relationships, we conducted indirect functional assessments of aggressive be... (Source: SafetyLit)
Source: SafetyLit - July 4, 2020 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news

Findings weaken notion that size equals strength for neural connections
(Picower Institute at MIT) Among a new study's many surprises about synaptic plasticity may be a new approach to addressing Fragile X syndrome: Finding and targeting a " Protein X " that appears to promote shrinkage of dendritic spines. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - June 30, 2020 Category: International Medicine & Public Health Source Type: news

Unexpected mental illnesses found in a spectrum of a rare genetic disorder
(University of California - Davis Health) UC Davis MIND Institute researchers found an unexpected spectrum of mental illnesses in patients with a rare gene mutation. These patients had a " double hit " condition that combined features and symptoms of fragile X syndrome and premutation disorder, in addition to a range of psychiatric symptoms. The findings revealed the need for clinicians to consider the complexities of the co-existing conditions of patients with both psychological and fragile X associated disorders. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 24, 2020 Category: International Medicine & Public Health Source Type: news

Scientific breakthrough toward treatment of Fragile X syndrome
(University of Calgary) Scientists at the University of Calgary have made a discovery that could lead to treatment of Fragile X syndrome (FXS), the leading genetic cause of autism. The study, involving mouse models, shows promise of translating to a treatment for people. Those with FXS are missing a protein vital to brain development called FMRP. The researchers used a fragment of FMRP which was able to cross the blood-brain barrier and restore the protein to normal levels. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 2, 2020 Category: International Medicine & Public Health Source Type: news

What Are the Symptoms of Fragile X Syndrome
What Are the Specific Symptoms of Fragile X Syndrome? (Source: eMedicineHealth.com)
Source: eMedicineHealth.com - May 31, 2020 Category: General Medicine Source Type: news

Fragile X in the Family
Discussion Fragile X syndrome (FXS) was first clinically described in 1943 by Martin-Bell and in 1969 Lubs found a fragility at the terminal end of the X chromosome. In 1991, three different research groups independently cloned the mutation for the FMR1 gene (Fragile X mental retardation type 1) which has a CGG triplet expansion. The FMR1 gene codes for the FMR protein which is a major regulator of synaptic plasticity and is expressed in the brain and spermatogonia mainly but many other tissues during fetal and early neonatal development. The number of triplets and methylation correlates with clinical expression (increased...
Source: PediatricEducation.org - April 27, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Behavioral intervention, not lovastatin, improves language skills in youth with fragile X
(University of California - Davis Health) A UC Davis Health study found more evidence for the efficacy of telehealth-delivered behavioral intervention in treating language problems in youth with fragile X syndrome. The authors, however, could not establish efficacy for the drug lovastatin as a treatment for learning or behavior problems in individuals with fragile X. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - April 21, 2020 Category: International Medicine & Public Health Source Type: news

Expressive Language Sampling Feasible in Fragile X Syndrome
MONDAY, March 30, 2020 -- Expressive language sampling (ELS) procedures are feasible for most individuals with fragile X syndrome (FXS) aged 6 to 23 years with intellectual disability, according to a study published online March 24 in the Journal of... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - March 30, 2020 Category: Pharmaceuticals Source Type: news

Researchers develop language test for people with Fragile X syndrome
NIH-funded test seeks to increase participation of individuals with Fragile X in clinical trials. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - March 24, 2020 Category: American Health Source Type: news

Researchers develop language test for people with Fragile X syndrome
(NIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development) Researchers have developed a test to measure the expressive language skills of people with Fragile X syndrome, a genetic disorder that may result in intellectual disability, cognitive impairment and symptoms of autism spectrum disorder. Expressive language refers to the use of words to convey meaning to others. The work was funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - March 24, 2020 Category: International Medicine & Public Health Source Type: news

Five language outcome measures evaluated for intellectual disabilities studies
(University of California - Davis Health) Expressive language sampling yielded five language-related outcome measures that may be useful for treatment studies in intellectual disabilities, especially fragile X syndrome. The measures were generally valid and reliable across the range of ages, IQs and autism symptom severity of participants. According to the study, led by UC Davis researchers and funded by NIH, the measures are also functional in supporting treatments that can improve language, providing far reaching benefits for individuals with intellectual disabilities. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - March 23, 2020 Category: International Medicine & Public Health Source Type: news

Today, FDA authorized the first test to detect Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay & intellectual disability. It ’ s intended as an aid in diagnosing FXS along w/ family history, clinical signs & symptoms.pic.twitter.com/teB7JS5VfZ
Today, FDA authorized the first test to detect Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay & intellectual disability. It’s intended as an aid in diagnosing FXS along w/ family history, clinical signs & symptoms. pic.twitter.com/teB7JS5VfZ (Source: Food and Drug Adminstration (FDA): CDRHNew)
Source: Food and Drug Adminstration (FDA): CDRHNew - February 21, 2020 Category: Medical Devices Authors: ( at US_FDA) Source Type: news

Study: Disease-causing repeats help human neurons function
(Michigan Medicine - University of Michigan) Researchers found that repeats in the gene that causes Fragile X Syndrome normally regulate how and when proteins are made in neurons. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 17, 2020 Category: International Medicine & Public Health Source Type: news

Atypical Sleep Tied to Language Skills in Neurodevelopmental Disorders
TUESDAY, Feb. 4, 2020 -- In children with fragile X syndrome (FXS), Down syndrome (DS), and Williams syndrome (WS), disrupted sleep may adversely affect language development, according to a study published in the February issue of Research in... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - February 4, 2020 Category: Pharmaceuticals Source Type: news

Sleep linked to language skills in neurodevelopmental disorders
(Anglia Ruskin University) New research has discovered that Down's syndrome, Fragile X syndrome and Williams syndrome are all linked to sleep disruption in very young children, and that sleep plays a crucial role in the development of these children's language skills. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - January 16, 2020 Category: Biology Source Type: news

Main Line pharma firm awarded patent for cannabidiol treatment
The U.S. Patent and Trademark Office has issued a patent to Zynerba Pharmaceuticals for the company ’s lead new drug candidate, a synthetic cannabidiol medicine. The patent, which expires in 2038, expands the Devon company’s intellectual property portfolio covering the experimental therapy called Zygel, which is formulated as a gel that is applied to the skin. Cannabidiol is a compound found in cannabis plants. Zygel is in late-stage clinical testing as potential treatment for fragile X syndrome.… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - November 13, 2019 Category: Biotechnology Authors: John George Source Type: news

UK-based health tech firm Healx secures $56m in Series B financing
The investment will be used to build a clinical-stage portfolio for rare diseases, including treatments for Fragile X syndrome. (Source: mobihealthnews)
Source: mobihealthnews - October 18, 2019 Category: Information Technology Source Type: news

Pharmacologic interventions for irritability, aggression, agitation and self-injurious behavior in fragile X syndrome: an initial cross-sectional analysis - Eckert EM, Dominick KC, Pedapati EV, Wink LK, Shaffer RC, Andrews H, Choo TH, Chen C, Kaufmann WE, Tartaglia N, Berry-Kravis EM, Erickson CA.
Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of... (Source: SafetyLit)
Source: SafetyLit - September 3, 2019 Category: International Medicine & Public Health Tags: Alcohol and Other Drugs Source Type: news

Recent Trials for Fragile X Syndrome Offer Hope
Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments. (Source: The Scientist)
Source: The Scientist - September 1, 2019 Category: Science Tags: Magazine Issue Features Source Type: news

Infographic: The Genetics of Fragile X Syndrome
(Source: The Scientist)
Source: The Scientist - September 1, 2019 Category: Science Tags: Magazine Issue Infographics Source Type: news

CBD Gel Promising for Fragile X Syndrome CBD Gel Promising for Fragile X Syndrome
A clear transdermal cannabidiol (CBD) gel improved emotional and behavioral symptoms in children and adolescents with fragile X syndrome and was well tolerated in a phase 2 study.Medscape Medical News (Source: Medscape Internal Medicine Headlines)
Source: Medscape Internal Medicine Headlines - May 21, 2019 Category: Internal Medicine Tags: Psychiatry News Source Type: news

Computer - Based Training Studied in Children With Fragile X Syndrome
Similar improvements seen in groups receiving adaptive, nonadaptive cognitive training program (Source: The Doctors Lounge - Psychiatry)
Source: The Doctors Lounge - Psychiatry - May 15, 2019 Category: Psychiatry Tags: Neurology, Pathology, Pediatrics, Psychiatry, Journal, Source Type: news

Computer-Based Training Studied in Children With Fragile X Syndrome
WEDNESDAY, May 15, 2019 -- No significant difference in outcomes was observed in children and adolescents with fragile X syndrome (FXS) receiving adaptive versus nonadaptive in-home cognitive training, according to a study published online April 15... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - May 15, 2019 Category: Pharmaceuticals Source Type: news

Zynerba stock soars after getting 'fast track' designation for experimental cannibanoid therapy
The Food and Drug Administration granted Fast Track Designation Monday to Zynerba Pharmaceuticals' lead synthetically produced cannabinoid therapy candidate The designation applies to the Devon's company's new drug candidate Zygel as a potential treatment for behavioral symptoms associated with Fragile X syndrome. The action sent Zynerba's stock price up nearly 10 percent to $12.54 per share in late morning trading. The FDA’s Fast Track program is designed to speed the development of drugs intended… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - May 6, 2019 Category: American Health Authors: John George Source Type: news

Zynerba Pharmaceuticals Receives Fast Track Designation for Zygel for the Treatment of Behavioral Symptoms Associated with Fragile X Syndrome (FXS)
Devon, PA, May 6, 2019— Zynerba Pharmaceuticals, Inc. (NASDAQ:ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for rare and near-rare neuropsychiatric disorders, today announced that the U.S. Food... (Source: Drugs.com - New Drug Applications)
Source: Drugs.com - New Drug Applications - May 6, 2019 Category: Drugs & Pharmacology Source Type: news

The persistence of self-injurious and aggressive behavior in males with fragile X syndrome over 8 years: a longitudinal study of prevalence and predictive risk markers - Crawford H, Karakatsani E, Singla G, Oliver C.
Self-injurious and aggressive behaviors are common in fragile X syndrome (FXS). However, little is known about the persistence of these behaviors and associated risk markers. We established the prevalence and persistence of self-injurious and aggressive be... (Source: SafetyLit)
Source: SafetyLit - April 29, 2019 Category: International Medicine & Public Health Tags: Suicide and Self-Harm Source Type: news

Confluence Pharmaceuticals receives $200K investment from IU fund
(Indiana University) Confluence Pharmaceuticals will use a $200,000 investment from the Indiana University Philanthropic Venture Fund to accelerate clinical development and regulatory activities on its lead asset, a product for the treatment of fragile X syndrome to improve important functionality including communication, social interaction and self-care. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 11, 2019 Category: International Medicine & Public Health Source Type: news

Mavoglurant Improves Visual Attention in Fragile X Syndrome
Increases noted in total absolute looking time, number of fixations to eye region while viewing faces (Source: The Doctors Lounge - Psychiatry)
Source: The Doctors Lounge - Psychiatry - January 23, 2019 Category: Psychiatry Tags: Neurology, Pediatrics, Pharmacy, Psychiatry, Journal, Source Type: news

Mavoglurant Improves Visual Attention in Fragile X Syndrome
WEDNESDAY, Jan. 23, 2019 -- For patients with fragile X syndrome (FXS), mavoglurant treatment improves visual attention and pupil reactivity, according to a study published online Jan. 17 in PLOS ONE. David Hessl, Ph.D., from the University of... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - January 23, 2019 Category: Pharmaceuticals Source Type: news

Scientists reverse a sensory impairment in mice with autism
Using a genetic technique that allows certain neurons in the brain to be switched on or off, UCLA scientists reversed a sensory impairment in mice with symptoms of autism, enabling them to learn a sensory task as quickly as healthy mice.Thefindings, which appear in the journal Nature Neuroscience, offer an intriguing glimpse of a potential strategy to help people with autism make sense of what their eyes see.In humans, the ability to perceive visual information is critical to learning of all kinds, including the interpretation of social cues. In children with autism, avoiding eye contact and struggling to understand people...
Source: UCLA Newsroom: Health Sciences - September 24, 2018 Category: Universities & Medical Training Source Type: news

Penn researchers: Class of neurological disorders share 3D genome folding pattern
(University of Pennsylvania) Researchers at the University of Pennsylvania have found a new common thread linking nearly all of the trinucleotide repeat expansion diseases, which include ALS, Huntington's Disease and Fragile X Syndrome, involving the complicated 3D patterns that the DNA is folded into in order to fit in the nucleus of the cell. Nearly all of the short tandem repeats known to grow unstable in disease are located at the boundaries that separate neighboring folded domains. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 18, 2018 Category: International Medicine & Public Health Source Type: news

Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins
Mutations in the fragile X mental retardation 1 gene (FMR1) cause the most common inherited human autism spectrum disorder. FMR1 influences messenger RNA (mRNA) translation, but identifying functional targets has been difficult. We analyzed quiescent Drosophila oocytes, which, like neural synapses, depend heavily on translating stored mRNA. Ribosome profiling revealed that FMR1 enhances rather than represses the translation of mRNAs that overlap previously identified FMR1 targets, and acts preferentially on large proteins. Human homologs of at least 20 targets are associated with dominant intellectual disability, and 30 ot...
Source: ScienceNOW - August 16, 2018 Category: Science Authors: Greenblatt, E. J., Spradling, A. C. Tags: Development reports Source Type: news

Turning up translation in fragile X syndrome
(Source: ScienceNOW)
Source: ScienceNOW - August 16, 2018 Category: Science Authors: Aryal, S., Klann, E. Tags: Development perspective Source Type: news

Fragile X: New drug strategy corrects behavior/biochemical measures in mouse model
(Emory Health Sciences) Research in mice shows that a pharmacological strategy can alleviate multiple behavioral and cellular deficiencies in a mouse model of fragile X syndrome, the most common inherited form of intellectual disability. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 13, 2018 Category: International Medicine & Public Health Source Type: news

CRISPR-Cas9 Gene Editing Reduces Repetitive Behavior In Mice With Autism-Like Syndrome
researchers have utilized CRISPR-Cas9 gene editing in mice with a form of Fragile X Syndrome to alter gene expression, resulting in reduction of repetitive behaviors. Fragile X Syndrome (FXS) is the most commonly identified single-gene cause of autism spectrum disorder (ASD). (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - June 25, 2018 Category: Pharmaceuticals Authors: Robert Glatter, MD, Contributor Source Type: news

CRISPR editing reduces repetitive behavior in mice with a form of autism
(University of California - Berkeley) Mice with fragile X syndrome are a common model for autism because the mice exhibit exaggerated repetitive behavior typical of the disorder. UC Berkeley and UT San Antonio researchers have for the first time gotten CRISPR into the brain to successfully edit a gene and reduce repetitive behavior. The CRISPR-Gold technique knocked out a gene for a neurotransmitter receptor, damping overexcitation and associated burying behavior. The technique could allow CRISPR therapies for other brain disorders. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 25, 2018 Category: International Medicine & Public Health Source Type: news

Examining the influence of social-environmental variables on self-injurious behaviour in adolescent boys with fragile X syndrome - Hall SS, Hustyi KM, Barnett RP.
BACKGROUND: Individuals with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, are at increased risk for showing specific forms of self-injurious behaviour (SIB) such as hand biting and head hitting, suggesting that... (Source: SafetyLit)
Source: SafetyLit - April 30, 2018 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news

White Matter Tracts Differ for Infants With Fragile X Syndrome
Significant differences identified in the development of 12 fiber tracts between FXS, controls (Source: The Doctors Lounge - Psychiatry)
Source: The Doctors Lounge - Psychiatry - April 9, 2018 Category: Psychiatry Tags: Neurology, Pathology, Pediatrics, Psychiatry, Journal, Source Type: news

White Matter Tracts Differ for Infants With Fragile X Syndrome
MONDAY, April 9, 2018 -- There are significant differences in the development of 12 fiber tracts between infants with fragile X syndrome (FXS) and controls, according to a study published online April 4 in JAMA Psychiatry. Meghan R. Swanson, Ph.D.,... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - April 9, 2018 Category: Pharmaceuticals Source Type: news

Main Line pharma company plans key study of Fragile X syndrome therapy
Zynerba Pharmaceuticals said Monday it plans — with the Food and Drug Administration's approval — to initiate a single pivotal study later this year to support a new drug application for its experimental cannabis-based treatment for Fragile X Syndrome. Fragile X is a rare genetic developmental disability that is a leading known cause of b oth inherited intellectual disability and autism spectrum disorder. It affects an estimated one in 3,600 to 4,000 males and one in 4,000 to 6,000 females.… (Source: bizjournals.com Health Care News Headlines)
Source: bizjournals.com Health Care News Headlines - March 5, 2018 Category: Health Management Authors: John George Source Type: news