Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.
- Mindell Seidlin,
- Robert Holzman,
- Pamela Knight,
- Bruce Korf,
- Vanessa Rangel Miller,
- David Viskochil,
- Annette Bakker,
PLoS One 2017 23;12(6):e0178639. Epub 2017 Jun 23.
Children's Tumor Foundation, New York, United States of America.
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. Read More