Trial reportAmerican journal of medical genetics. Part A2010
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
Trial report in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome.BMC neurology · 2014Trial
- A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.American journal of medical genetics. Part A · 2011Trial
- Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome.Journal of intellectual disability research : JIDR · 2025Article
- The Epigenetic Role of Nutrition Among Children and Adolescents: A Systematic Literature Review.Children (Basel, Switzerland) · 2025Review
- UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.Diseases (Basel, Switzerland) · 2023Review
- Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews.Children (Basel, Switzerland) · 2023Article
- Prader-Willi and Angelman Syndromes: Mechanisms and Management.The application of clinical genetics · 2023Review
- A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.Molecular genetics & genomic medicine · 2022Review
- Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Epilepsy in Angelman syndrome: A scoping review.Brain & development · 2021Article
- The HECT E3 Ligase E6AP/UBE3A as a Therapeutic Target in Cancer and Neurological Disorders.Cancers · 2020Review
- A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.Orphanet journal of rare diseases · 2019Article
- A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).The patient · 2019Article
- Pharmacological therapies for Angelman syndrome.Wiener medizinische Wochenschrift (1946) · 2017Review
- Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD).Frontiers in neuroscience · 2016Review
- Potential therapeutic approaches for Angelman syndrome.Expert opinion on therapeutic targets · 2016Review
- Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- Angelman syndrome: review of clinical and molecular aspects.The application of clinical genetics · 2014Review
- Developing epigenetic diagnostics and therapeutics for brain disorders.Trends in molecular medicine · 2013Review
- Molecular and Clinical Aspects of Angelman Syndrome.Molecular syndromology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11-q13. UBE3A is subject to genomic imprinting in neurons in most regions of the brain. Expression of UBE3A from the maternal chromosome is essential to prevent AS, because the paternally inherited gene is not expressed, probably mediated by antisense UBE3A RNA. We hypothesized that increasing methylation might reduce expression of the antisense UBE3A RNA, thereby increasing UBE3A expression from the paternal gene and ameliorating the clinical phenotype. We conducted a trial using two dietary supplements, betaine and folic acid to promote global levels of methylation and attempt to activate the paternally inherited UBE3A gene. We performed a number of investigations at regular intervals including general clinical and developmental evaluations, biochemical determinations on blood and urine, and electroencephalographic studies. We report herein the data on 48 children with AS who were enrolled in a double-blind placebo-controlled protocol using betaine and folic acid for 1 year. There were no statistically significant changes between treated and untreated children; however, in a small subset of patients we observed some positive trends.
Indexed 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.