The NF Registry is a database of patient-reported experiences of living with
neurofibromatosis. It also serves as a referral source for clinical trials.
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, CTF educational and fundraising events, and other
nonprofit organizations and foundations such as the National Organization for Rare Diseases
(NORD) and the Agency for Healthcare Research and Quality's (AHRQ) Registry of Registries.
The NF Registry will be accessed by individual subjects via a web-based patient portal. The
portal first provides informed consent information. Following consent, the registrant creates
an account by choosing a unique username and password. 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, a patient profile can be completed via on-line questionnaires.
There are separate questionnaires for NF1, NF2, and Schwannomatosis. The questionnaires 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. They also ask permission from the patient or his or her
parent or guardian to be contacted by email (via CTF) in regard to relevant clinical trials
Participant's responses are used to compile charts and graphics of de-identified aggregate
data. Registered patients may view this data.
Researchers may request access to de-identified data. They may also request that CTF send
emails of study recruitment materials to specific patient subgroups.
Data capture for the NF Registry is being done under contract with PatientCrossroads (San
Mateo, CA), a state-of-the-art web-based patient opt-in registry that also performs this
function for 250 other rare disease registries.
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.
- Diagnosed with NF1
- Diagnosed with NF2
- Diagnosed with Schwannomatosis
- Failure to complete account registration