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

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.

Malignant Peripheral Nerve Sheath Tumors: From Epigenome to Bedside

“…Additional steps should be taken toward establishing large databases of patient NF1 genotypes and outcomes in order to gain additional, detailed insights into genotype-phenotype correlations and how these might be leveraged to allow more effective MPNST treatment. Two patient registries have been established in recent years; more information is needed to understand the variability in NF-1 presentation (156,157).…”

Study of the Demographic and Clinical Profile in a Neurocutaneous Rare Disease: A Cross-Sectional Study

“…The results of other studies also show that neuro bromatosis affects all races and both males and females equally (23). No signi cant relationship was found between age and disease type, which was not consistent with a study by Seidlin et al (2017) (14). Only 14.3% of patients underwent genetic testing.…”

“…Schwannomatosis (14). The prevalence of type 1 neuro bromatosis in the world is expected to be one in every 3,000 births, the prevalence of type 2 neuro bromatosis is two out of every 30,000 births, and prevalence of Schwannomatosis is 1 out of every 40,000 births (15,16).…”

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

“…We also reviewed prospectively-collected data from the CTF-sponsored NF Patient Registry, an online registry that contains self-reported (or parent-reported, in the case of patients under the age of 18) demographic and clinical data for over 7500 NF patients internationally [ 9 ]. For all living, U.S. based patients, we retrieved data as of October 14, 2015 on self-reported diagnosis, age, state of residence, home zip code, and clinic attended for NF care.…”