A Study of OV101 in Individuals With Angelman Syndrome (AS)

Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials

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Publication date: Available online 12 November 2019Source: NeuroscienceAuthor(s): Rebecca Dutta, Jacqueline N. CrawleyAbstractAngelman syndrome is a neurodevelopmental disorder presenting with severe deficits in motor, speech, and cognitive abilities. The primary genetic cause of Angelman syndrome is a maternally transmitted mutation in the Ube3a gene, which has been successfully modeled in Ube3a mutant mice. Phenotypes have been extensively reported in young adult Ube3a mice. Because symptoms continue throughout life in Angelman syndrome, we tested multiple behavioral phenotypes of male Ube3a mice and WT littermate contro...
Source: Neuroscience - Category: Neuroscience Source Type: research
Conditions:   Mental Disorder;   Fetus Disorder Intervention:   Sponsor:   National Cheng-Kung University Hospital Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, lack of speech, ataxia, EEG abnormalities, and epilepsy. Seizures in individuals with AS are common, debilitating, and often drug resistant. Thus, there is an unmet need for better treatment options. Cannabidiol (CBD), a major phytocannabinoid constituent of cannabis, has shown antiseizure activity and behavioral benefits in preclinical and clinical studies for some disorders associated with epilepsy, suggesting that the same could be true for AS. Here, we show that acute CBD (100 mg/kg) treatment attenuated hyperthermia- and ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
The objective of this study is to describe variations in the healthcare resource utilization (HRU) among individuals with Angelman syndrome (AS) over the first 12  years of life. Data for this study were drawn ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
CONCLUSIONS: These neurophysiological findings suggest a subcortical generator of myoclonus in AS. SIGNIFICANCE: Myoclonus in AS has not a cortical origin as previously hypothesised. PMID: 31704627 [PubMed - as supplied by publisher]
Source: Clinical Neurophysiology - Category: Neurology Authors: Tags: Clin Neurophysiol Source Type: research
Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with Angelman-like syndrome. Int J Dev Neurosci. 2019 Oct 21;: Authors: Kharrat M, Triki C, Maalej M, Ncir S, Ammar M, Kammoun F, Fakhfakh F Abstract Mutations in Methyl-CpG-Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome. However, MECP2 mutations have already been reported in patients with neurodevelopmental abnormalities such as X-linked mental retardation, severe neonatal encephalopathy an...
Source: International Journal of Developmental Neuroscience - Category: Neuroscience Authors: Tags: Int J Dev Neurosci Source Type: research
Authors: Zhou Q, Yu Q, Gong Y, Liu Z, Xu H, Wang Y, Shi Y Abstract Psoriasis is a chronic inflammatory skin disorder that impairs the quality of life of affected patients. Emerging studies indicate that certain long non-coding RNAs (lncRNAs) have important roles in psoriasis. However, the exact functions of lncRNAs and their regulatory mechanisms as competitive endogenous RNAs (ceRNAs) in psoriasis have remained to be fully elucidated. In the present study, differentially expressed lncRNAs, microRNAs (miRNAs) and mRNAs were identified by analyzing public datasets, and a psoriasis-associated lncRNA-miRNA-mRNA networ...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med Source Type: research
ConclusionsBehaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
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