Does the registry speak your language? A case study of the Global Angelman Syndrome Registry
Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 19, 2023 Category: Internal Medicine Authors: Megan Tones, Nikolajs Zeps, Yvette Wyborn, Adam Smith, Roberto A. Barrero, Helen Heussler, Meagan Cross, James McGree and Matthew Bellgard Tags: Letter to the Editor Source Type: research
Bone health in children with Angelman syndrome at the ENCORE Expertise Center
Conclusions: Children with AS have a reduced bone health. Risk factors are deletion genotype, no independent walking, and late onset of puberty. Bone health decreased significantly with age.What is Known:• Children with neurological disorders often have a low bone health and higher risk of fractures.• Little is known about bone health in children with Angelman syndrome (AS).What is New:• Children with AS showed a reduced bone health and this was significantly associated with having a deletion, not being able to walk independently, and late onset of puberty.• Longitudinal analysis showed a significant decrease in bo...
Source: European Journal of Pediatrics - October 13, 2023 Category: Pediatrics Source Type: research
An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study
CONCLUSIONS: Our validation analysis of the CGI-I-AS demonstrates its usefulness along with possible areas of improvement. The CGI-I-AS is a potential tool for use in other trials of AS drug candidates, and the process for its development can serve as a road map for the development of assessment tools for other neuropsychiatric disorders with similar complexities and heterogeneity.PMID:37688937 | DOI:10.1016/j.ejpn.2023.08.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 9, 2023 Category: Neurology Authors: Pamela Ventola Judith Jaeger Christopher J Keary Alexander Kolevzon Maxwell Adams Bina Keshavan Celia Zinger-Salmun Cesar Ochoa-Lubinoff Source Type: research
An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study
CONCLUSIONS: Our validation analysis of the CGI-I-AS demonstrates its usefulness along with possible areas of improvement. The CGI-I-AS is a potential tool for use in other trials of AS drug candidates, and the process for its development can serve as a road map for the development of assessment tools for other neuropsychiatric disorders with similar complexities and heterogeneity.PMID:37688937 | DOI:10.1016/j.ejpn.2023.08.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 9, 2023 Category: Neurology Authors: Pamela Ventola Judith Jaeger Christopher J Keary Alexander Kolevzon Maxwell Adams Bina Keshavan Celia Zinger-Salmun Cesar Ochoa-Lubinoff Source Type: research
An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study
CONCLUSIONS: Our validation analysis of the CGI-I-AS demonstrates its usefulness along with possible areas of improvement. The CGI-I-AS is a potential tool for use in other trials of AS drug candidates, and the process for its development can serve as a road map for the development of assessment tools for other neuropsychiatric disorders with similar complexities and heterogeneity.PMID:37688937 | DOI:10.1016/j.ejpn.2023.08.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 9, 2023 Category: Neurology Authors: Pamela Ventola Judith Jaeger Christopher J Keary Alexander Kolevzon Maxwell Adams Bina Keshavan Celia Zinger-Salmun Cesar Ochoa-Lubinoff Source Type: research
An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study
CONCLUSIONS: Our validation analysis of the CGI-I-AS demonstrates its usefulness along with possible areas of improvement. The CGI-I-AS is a potential tool for use in other trials of AS drug candidates, and the process for its development can serve as a road map for the development of assessment tools for other neuropsychiatric disorders with similar complexities and heterogeneity.PMID:37688937 | DOI:10.1016/j.ejpn.2023.08.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 9, 2023 Category: Neurology Authors: Pamela Ventola Judith Jaeger Christopher J Keary Alexander Kolevzon Maxwell Adams Bina Keshavan Celia Zinger-Salmun Cesar Ochoa-Lubinoff Source Type: research
Quality of Life in Angelman Syndrome: A Caregivers' Survey
A web-based survey was distributed to caregivers of individuals with Angelman Syndrome (AS) to characterize motor function, cannabidiol (CBD) use, and factors affecting quality of life (QOL).One hundred eighty three individuals with AS (mean age of 19.4 ± 13.4 years; 48.1% female): 72% had sleep problems, 80% had seizures, and 32% had ≥1 ED visits in the previous year. Eighty-eight percent were ambulatory (with or without assistance), and half experienced falls, 10.4% resulting in serious injury. (Source: Pediatric Neurology)
Source: Pediatric Neurology - September 4, 2023 Category: Neurology Authors: Nancy Y. Xia, Mitzie L. Grant, Nicholas L. Benjamin, Ignacio Valencia Tags: Research Paper Source Type: research
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
CONCLUSIONS: There was no significant difference in CGI-I-AS between gaboxadol and placebo after 12 weeks of study treatment in pediatric AS participants.CLINICALTRIALS: GOV: NCT04106557.PMID:37639777 | DOI:10.1016/j.ejpn.2023.07.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 28, 2023 Category: Neurology Authors: Christopher Keary Lynne M Bird Marie-Claire de Wit Shivkumar Hatti Gali Heimer Helen Heussler Alexander Kolevzon Adera Mathews Cesar Ochoa-Lubinoff Wen-Hann Tan Ying Yan Maxwell Adams Source Type: research
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
CONCLUSIONS: There was no significant difference in CGI-I-AS between gaboxadol and placebo after 12 weeks of study treatment in pediatric AS participants.CLINICALTRIALS: GOV: NCT04106557.PMID:37639777 | DOI:10.1016/j.ejpn.2023.07.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 28, 2023 Category: Neurology Authors: Christopher Keary Lynne M Bird Marie-Claire de Wit Shivkumar Hatti Gali Heimer Helen Heussler Alexander Kolevzon Adera Mathews Cesar Ochoa-Lubinoff Wen-Hann Tan Ying Yan Maxwell Adams Source Type: research
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
CONCLUSIONS: There was no significant difference in CGI-I-AS between gaboxadol and placebo after 12 weeks of study treatment in pediatric AS participants.CLINICALTRIALS: GOV: NCT04106557.PMID:37639777 | DOI:10.1016/j.ejpn.2023.07.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 28, 2023 Category: Neurology Authors: Christopher Keary Lynne M Bird Marie-Claire de Wit Shivkumar Hatti Gali Heimer Helen Heussler Alexander Kolevzon Adera Mathews Cesar Ochoa-Lubinoff Wen-Hann Tan Ying Yan Maxwell Adams Source Type: research
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
CONCLUSIONS: There was no significant difference in CGI-I-AS between gaboxadol and placebo after 12 weeks of study treatment in pediatric AS participants.CLINICALTRIALS: GOV: NCT04106557.PMID:37639777 | DOI:10.1016/j.ejpn.2023.07.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 28, 2023 Category: Neurology Authors: Christopher Keary Lynne M Bird Marie-Claire de Wit Shivkumar Hatti Gali Heimer Helen Heussler Alexander Kolevzon Adera Mathews Cesar Ochoa-Lubinoff Wen-Hann Tan Ying Yan Maxwell Adams Source Type: research
Long Non-coding RNA Prader Willi/Angelman Region RNA 6 Suppresses Glioma Development by Modulating MicroRNA-106a-5p
Biochem Genet. 2023 Aug 23. doi: 10.1007/s10528-023-10479-6. Online ahead of print.ABSTRACTAs one of the most frequent intracranial tumors, glioma showed invasive development and poor prognosis. lncRNAs have been illustrated to serve as biomarkers in various cancers. Whether the long non-coding RNA Prader Willi/Angelman region RNA 6 (PWAR6) was involved in glioma development and the underlying mechanism was investigated. PWAR6 in glioma was evaluated by polymerase chain reaction and its clinical significance was assessed with a series of statistical analyses. The biological function of PWAR6 was investigated with the cell ...
Source: Biochemical Genetics - August 23, 2023 Category: Genetics & Stem Cells Authors: Yongjun E Xianglin Zhang Heji Ma Furen Dong Source Type: research
Current and emerging treatment options for Angelman syndrome
Expert Rev Neurother. 2023 Aug 21:1-10. doi: 10.1080/14737175.2023.2245568. Online ahead of print.ABSTRACTINTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, limited expressive language, epilepsy, and motor impairment. Angelman syndrome is caused by haploinsufficiency of the UBE3A gene on the maternal copy of chromosome 15. There have been ongoing advances in the understanding of neurological, behavioral, and sleep-based problems and associated treatments for patients with AS. These results along with gene-based therapies entering into clinical development prompte...
Source: Expert Review of Neurotherapeutics - August 21, 2023 Category: Neurology Authors: Christopher J Keary Christopher J McDougle Source Type: research
