Neurofibromatosis (NF) Registry Portal

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01885767
Recruitment Status : Recruiting
First Posted : June 25, 2013
Last Update Posted : January 25, 2018
Information provided by (Responsible Party):
The Children's Tumor Foundation

May 22, 2013
June 25, 2013
January 25, 2018
June 2012
June 2022   (Final data collection date for primary outcome measure)
to determine the natural history of NF1, NF2, and schwannomatosis [ Time Frame: from registration until death ]
patients will input medical information and treatment information about their NF and update at least yearly
Same as current
Complete list of historical versions of study NCT01885767 on Archive Site
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Neurofibromatosis (NF) Registry Portal
Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation
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 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 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.

Observational [Patient Registry]
Observational Model: Case-Only
Time Perspective: Other
50 Years
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Non-Probability Sample
Patients affected with NF1, NF2, or Schwannomatosis
  • Neurofibromatosis 1
  • Neurofibromatosis 2
  • Schwannomatosis
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  • NF1
    Patients meeting clinical and/or genetic criteria for Neurofibromatosis 1
  • NF2
    Patients meeting clinical and/or genetic criteria for Neurofibromatosis 2
  • SchW
    Patients meeting clinical and/or genetic criteria for Schwannomatosis
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Same as current
June 2050
June 2022   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Diagnosed with NF1
  • Diagnosed with NF2
  • Diagnosed with Schwannomatosis

Exclusion Criteria:

  • Failure to complete account registration
Sexes Eligible for Study: All
Child, Adult, Older Adult
Contact: Pamela B Knight, M.S. 212-344-6633 ext 8555
Contact: Annette Bakker, Ph.D. 212-344-6633 ext 7029
United States
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Plan to Share IPD: No
Plan Description: deidentified data only may be shared
The Children's Tumor Foundation
The Children's Tumor Foundation
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Principal Investigator: Pamela B Knight, M.S. The Children's Tumor Foundation
The Children's Tumor Foundation
January 2018