ArticleOrphanet journal of rare diseases2017
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Italian Angelman Syndrome Registry Project
The Global Angelman Syndrome Registry
Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- CASCADE: a community-engaged action model for generating rapid, patient-engaged decisions in clinical research.BMC medical research methodology · 2025Article
- Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).American journal of medical genetics. Part A · 2025Article
- Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.Orphanet journal of rare diseases · 2024Article
- Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.Journal of clinical medicine · 2024Article
- Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism.Journal of clinical and translational science · 2024Article
- Does the registry speak your language? A case study of the Global Angelman Syndrome Registry.Orphanet journal of rare diseases · 2023Article
- Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome.Journal of intellectual disability research : JIDR · 2022Article
- Unmet need for patient involvement in rheumatology registries and observational studies: a mixed methods study.RMD open · 2022Article
- Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.JAMA network open · 2022Article
- Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions.Current opinion in genetics & development · 2021Article
- Epilepsy in Angelman syndrome: A scoping review.Brain & development · 2021Article
- Article
- RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework.Orphanet journal of rare diseases · 2019Article
- Trial Refresh: A Case for an Adaptive Platform Trial for Pulmonary Exacerbations of Cystic Fibrosis.Frontiers in pharmacology · 2019Review
- Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.Therapeutic advances in rare diseaseReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries. The Global AS Registry is web-based and allows parents and guardians worldwide to register, provide informed consent, and enter data on individuals with AS. 286 patients have registered in the first 8 months since deployment.We demonstrate the successful deployment of the first patient-driven global registry for AS. The data generated from the Global AS Registry will be crucial in identifying patients suitable for clinical trials and in informing research that will identify treatments for AS, and ultimately improve the lives of individuals and their families living with AS.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.