Neurofibromatosis (NF) Registry Portal

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2016 by The Children's Tumor Foundation
Information provided by (Responsible Party):
The Children's Tumor Foundation Identifier:
First received: May 22, 2013
Last updated: January 26, 2016
Last verified: January 2016
The NF Registry is a database of patient-reported experiences of living with neurofibromatosis. It also serves as a referral source for clinical trials.

Neurofibromatosis 1
Neurofibromatosis 2

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Case-Only
Target Follow-Up Duration: 50 Years
Official Title: Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation

Resource links provided by NLM:

Further study details as provided by The Children's Tumor Foundation:

Primary Outcome Measures:
  • to determine the natural history of NF1, NF2, and schwannomatosis [ Time Frame: from registration until death ] [ Designated as safety issue: No ]
    patients will input medical information and treatment information about their NF and update at least yearly

Estimated Enrollment: 10000
Study Start Date: June 2012
Estimated Study Completion Date: June 2050
Estimated Primary Completion Date: June 2022 (Final data collection date for primary outcome measure)
Patients meeting clinical and/or genetic criteria for Neurofibromatosis 1
Patients meeting clinical and/or genetic criteria for Neurofibromatosis 2
Patients meeting clinical and/or genetic criteria for Schwannomatosis

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 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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients affected with NF1, NF2, or Schwannomatosis

Inclusion Criteria:

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

Exclusion Criteria:

  • Failure to complete account registration
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01885767

Contact: Pamela B Knight, M.S. 212-344-6633 ext 8555
Contact: Annette Bakker, Ph.D. 212-344-6633 ext 7029

United States, New York
Children's Tumor Fundation Recruiting
New York, New York, United States, 10005
Principal Investigator: Pamela B Knight, M.S.         
Sponsors and Collaborators
The Children's Tumor Foundation
Principal Investigator: Pamela B Knight, M.S. The Children's Tumor Foundation
  More Information

Responsible Party: The Children's Tumor Foundation Identifier: NCT01885767     History of Changes
Other Study ID Numbers: CTF001 
Study First Received: May 22, 2013
Last Updated: January 26, 2016
Health Authority: United States: Institutional Review Board

Keywords provided by The Children's Tumor Foundation:
Neurofibromatosis 1
Neurofibromatosis 2

Additional relevant MeSH terms:
Neurofibromatosis 1
Neurofibromatosis 2
Cranial Nerve Diseases
Cranial Nerve Neoplasms
Ear Diseases
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Neoplasms by Histologic Type
Neoplasms, Germ Cell and Embryonal
Neoplasms, Nerve Tissue
Neoplastic Syndromes, Hereditary
Nerve Sheath Neoplasms
Nervous System Diseases
Nervous System Neoplasms
Neurocutaneous Syndromes
Neurodegenerative Diseases
Neuroectodermal Tumors
Neuroendocrine Tumors
Neuroma, Acoustic
Neuromuscular Diseases
Otorhinolaryngologic Diseases
Otorhinolaryngologic Neoplasms
Peripheral Nervous System Diseases
Peripheral Nervous System Neoplasms
Retrocochlear Diseases processed this record on May 24, 2016