Neurofibromatosis (NF) Registry Portal

Brief Title

Neurofibromatosis (NF) Registry Portal

Official Title

Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation

Brief Summary

      The NF Registry is a database of patient-reported symptoms, treatments, and experiences with
      their neurofibromatosis disease. It is a contact registry to relay clinical trial
      opportunities to targeted patient subgroups, and to supply de-identified disease data to
      researchers. It has the potential to become a natural history resource.

Detailed Description

      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 social media.

      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
      and studies.

      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 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.

Study Type

Observational [Patient Registry]

Primary Outcome

to create a natural history of NF1, NF2, and schwannomatosis


Neurofibromatosis 1

Study Arms / Comparison Groups

Description:  Patients meeting clinical and/or genetic criteria for Neurofibromatosis 1


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

June 2012

Completion Date

June 2050

Primary Completion Date

June 2030

Eligibility Criteria

        Inclusion Criteria:

          -  Diagnosed with NF1

          -  Diagnosed with NF2

          -  Diagnosed with Schwannomatosis

        Exclusion Criteria:

          -  Failure to complete account registration




N/A - N/A

Accepts Healthy Volunteers



Pamela B Knight, M.S., 212-344-6633, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

The Children's Tumor Foundation

Study Sponsor

Pamela B Knight, M.S., Principal Investigator, The Children's Tumor Foundation

Verification Date

July 2020