Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study

PLoS One. 2017 Jun 23;12(6):e0178639. doi: 10.1371/journal.pone.0178639. eCollection 2017.

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.

Publication types

  • Observational Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomedical Research / methods
  • Child
  • Child, Preschool
  • Clinical Trials as Topic
  • Confidentiality
  • Data Curation
  • Female
  • Humans
  • Infant
  • Internationality
  • Internet*
  • Male
  • Middle Aged
  • Neurofibromatoses* / epidemiology
  • Patient Participation
  • Quality Control
  • Registries*
  • Surveys and Questionnaires
  • Young Adult

Grants and funding

The funder (Children’s Tumor Foundation) provided support in the form of salaries for authors AB and PK and fees for consultants MS and RH. Authors BK and DV received no direct compensation for their work on the manuscript. Author VM is an employee of Invitae (formerly AltaVoice), a commercial company which collects a fee from the study sponsor for providing Registry hosting services. She has no direct financial interest in the publication of this manuscript. The funder did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of the authors are articulated in the “author contributions” section of the journal form.