Observational studyPloS one2017
Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.
Observational study in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses 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
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Decision-Making Around Preimplantation Genetic Testing by Individuals With Neurofibromatosis Type I: A Qualitative Study.Journal of genetic counseling · 2026Article
- Perspectives of Adult Patients and Caregivers on the Management and Challenges Associated with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Multinational Qualitative Survey.Neurology and therapy · 2026Article
- Development and Initial Validation of the Quality of life Evaluation inmedRxiv : the preprint server for health sciences · 2026Article
- Idiopathic hypersomnia symptoms over Time: Longitudinal follow up from the Hypersomnia Foundation registry.Sleep medicine · 2025Article
- Self-reported access to specialty clinics and receipt of health surveillance among U.S. patients with neurofibromatosis 1: a national survey.Orphanet journal of rare diseases · 2025Article
- Perspectives of adolescents with neurofibromatosis 1 and cutaneous neurofibromas: Implications for clinical trials.Clinical trials (London, England) · 2024Article
- Advancing neurofibromatosis and schwannomatosis clinical trial design: Consensus recommendations from the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration.Clinical trials (London, England) · 2024Article
- Perspectives of adults with neurofibromatosis regarding the design of psychosocial trials: Results from an anonymous online survey.Clinical trials (London, England) · 2024Article
- Parent perspectives on disclosing a pediatric neurofibromatosis type 1 diagnosis.Journal of genetic counseling · 2023Article
- Loss of social independence in patients with neurofibromatosis type 2: a follow-up study using a national registry in Japan.Environmental health and preventive medicine · 2023Article
- Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists.Orphanet journal of rare diseases · 2022Article
- Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey.American journal of medical genetics. Part A · 2022Article
- Perspective of Adults With Neurofibromatosis 1 and Cutaneous Neurofibromas: Implications for Clinical Trials.Neurology · 2021Article
- Association between pheochromocytoma and neurofibromatosis type I: a rare entity in the African population.BMJ case reports · 2021Article
- Disease symptomatology and response to treatment in people with idiopathic hypersomnia: initial data from the Hypersomnia Foundation registry.Sleep medicine · 2020Article
- Social Independence of Patients with Neurofibromatosis Type 2 in Japan: Analysis of a National Registry of Patients Receiving Medical Expense Subsidies, 2004-2013.Neurologia medico-chirurgica · 2020Article
- Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders.Behavior genetics · 2020Review
- Evaluation of neurofibromatosis type 1 progression using a nationwide registry of patients who submitted claims for medical expense subsidies in Japan between 2008 and 2012.Orphanet journal of rare diseases · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient. The rarity and variability of these disorders has made it challenging for investigators to identify sufficient numbers of patients with particular clinical characteristics or specific germline mutations for participation in interventional studies. Similarly, because the natural history of all types of neurofibromatosis (NF) is variable and unique for each individual, it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions. In 2012, the Children's Tumor Foundation created a web-based patient-entered database, the NF Registry, to inform patients of research opportunities for which they fit general eligibility criteria and enable patients to contact investigators who are seeking to enroll patients in approved trials. Registrants were recruited through CTF-affiliated NF clinics and conferences, through its website, and by word-of-mouth and social media. Following online consent, demographic information and details regarding manifestations of NF were solicited on the Registry website. Statistical analyses were performed on data from a cohort of 4680 registrants (the number of registrants as of October 9, 2015) who met diagnostic criteria for one of the 3 NF conditions. The analyses support our hypothesis that patient-reported symptom incidences in the NF Registry are congruent with published clinician-sourced data. Between April 26, 2013 and July 8, 2016, the registry has been useful to investigators in recruitment, particularly for observational trials, especially those for development of patient-reported outcomes.
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.