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.
Highlights
The Children’s Tumor Foundation (CTF) is a 501(c)(3) medical foundation focused on research, education, advocacy and patient support in the neurofibromatoses including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCHW)
Disease registries have been used to support clinical research since at least the 1940s [29]. They may take the form of national health databases, contact registries [7], consortium-based, such as the NIH Office of Rare Diseases Research’s Rare Disease Clinical Research Network (RDCRN) Contact Registry [8], or disease agnostic, such as the Clinical Translational Science Awards (CTSA) consortium’s ResearchMatch [9]
Maintaining a patient-entered contact registry was seen by the Foundation as a way to promote treatment development in NF by de-risking the critical task of completing trial enrollment, which is especially difficult in rare disease [7]
Summary
The Children’s Tumor Foundation (CTF) is a 501(c)(3) medical foundation focused on research, education, advocacy and patient support in the neurofibromatoses including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCHW). The neurofibromatoses are rare disorders with incidences of about 1 in 3000 live births for NF1, one in 30 000 for NF2 and one in 40 000 for SCHW. Each of these conditions may lead to multiple clinical manifestations, which vary greatly from patient to patient. The rarity and variability of NF make it challenging for investigators to identify sufficient numbers of patients with specific clinical characteristics or germline mutations for participation in interventional studies. Because the natural history is not well characterized it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions
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