Patients and parents of patients will be made aware of the Neurofibromatosis (NF) Registry
through various non-commercial information sources such as the Children's Tumor Foundation
(CTF) website, CTF-affiliated NF clinics, social media, CTF educational and fundraising
events, and other nonprofit organizations and foundations such as the National Organization
for Rare Diseases (NORD) and social media.
The NF Registry will be accessed by individual adult (over age 18) subjects via a web-based
patient portal. The portal contains an IRB-approved informed consent form. Following consent,
the registrant creates an account which is activated after email confirmation. An account can
be created by an adult patient with the disorder, or by the parent or guardian of a child
with the disorder. Account creators are required to enter identifiable contact and
demographic data.
After the account is created, the account owner enrolls themselves or a minor family member
(or both) and completes an on-line survey. There are separate surveys for NF1, NF2, and
Schwannomatosis. The surveys ask about about the affected individual's medical and family
history of the disease, testing and diagnosis, clinical manifestations (e.g., tumor types and
locations) interventions and therapies, and quality of life. The account holder chooses
whether to receive emails from the Registry with information about relevant clinical trials
and studies for which they may be eligible.
Participant's responses are used to compile charts and graphics of de-identified aggregate
data. Registered patients may view this data. Researchers may apply to our Data Use Committee
for access to de-identified data or for subject recruitment emails to be sent to specific
patient subgroups. Data capture and security for the NF Registry is done under contract by
OpenApp (Dublin, Ireland), a web-based patient opt-in registry provider.Participants will be
asked to update their information at least once a year. Their information will be stored in
the NF Registry for an indefinite period of time. This longitudinal study is intended as a
resource for patients and researchers. There is no specific outcome measure or anticipated
endpoint.
