ArticleGenes2019
The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics.
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- The burden of illness in Prader-Willi syndrome: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- SMCHD1 is a target for gene activation therapy to treat Prader-Willi syndrome.Science advances · 2026Article
- Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.Journal of endocrinological investigation · 2026Article
- Emergency Department Care for Patients With Prader-Willi Syndrome: A 2019-2021 National Emergency Department Sample Analysis.Journal of autism and developmental disorders · 2026Article
- Study design with responsible return of results for a fully remote genome sequencing study in individuals with Prader-Willi syndrome.Genetics in medicine open · 2026Article
- A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan.Endocrine journal · 2025Article
- Inpatient Hospitalizations for COVID-19 Among Patients With Prader-Willi Syndrome: A National Inpatient Sample Analysis.American journal of medical genetics. Part A · 2025Article
- Lack of correlation between asprosin serum levels and hyperphagic behavior in subjects with prader-Willi Syndrome.Journal of endocrinological investigation · 2025Article
- Life Satisfaction, Global Health and Mood in Prader-Willi Syndrome: Use of PROMIS and Glasgow Depression Scales.Journal of applied research in intellectual disabilities : JARID · 2025Article
- Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome.Journal of neurodevelopmental disorders · 2025Article
- Inpatient Hospitalizations for COVID-19 Among Patients with Prader-Willi Syndrome: a National Inpatient Sample Analysis.medRxiv : the preprint server for health sciences · 2024Article
- Newly developed oral bioavailable EHMT2 inhibitor as a potential epigenetic therapy for Prader-Willi syndrome.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Prader-Willi syndrome: guidance for children and transition into adulthood.Endocrine connections · 2024Article
- The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome.Orphanet journal of rare diseases · 2024Article
- Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.Frontiers in endocrinology · 2024Review
- Analysis of Hyperphagia Questionnaire for Clinical Trials (HQ-CT) scores in typically developing individuals and those with Prader-Willi syndrome.Scientific reports · 2023Article
- Does the registry speak your language? A case study of the Global Angelman Syndrome Registry.Orphanet journal of rare diseases · 2023Article
- The Italian registry for patients with Prader-Willi syndrome.Orphanet journal of rare diseases · 2023Article
- Article
- Social consequences and genetics for the child with overweight and obesity: An obesity medicine association (OMA) clinical practice statement 2022.Obesity pillars · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advances in technologies offer new opportunities to collect and integrate data from a broad range of sources to advance the understanding of rare diseases and support the development of new treatments. Prader-Willi syndrome (PWS) is a rare, complex neurodevelopmental disorder, which has a variable and incompletely understood natural history. PWS is characterized by early failure to thrive, followed by the onset of excessive appetite (hyperphagia). Additional characteristics include multiple endocrine abnormalities, hypotonia, hypogonadism, sleep disturbances, a challenging neurobehavioral phenotype, and cognitive disability. The Foundation for Prader-Willi Research's Global PWS Registry is one of more than twenty-five registries developed to date through the National Organization of Rare Disorders (NORD) IAMRARE Registry Program. The Registry consists of surveys covering general medical history, system-specific clinical complications, diet, medication and supplement use, as well as behavior, mental health, and social information. Information is primarily parent/caregiver entered. The platform is flexible and allows addition of new surveys, including updatable and longitudinal surveys. Launched in 2015, the PWS Registry has enrolled 1696 participants from 37 countries, with 23,550 surveys completed. This resource can improve the understanding of PWS natural history and support medical product development for PWS.
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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.