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

Brief Summary:
The NF Registry is a database of patient-reported experiences of living with neurofibromatosis. It also serves as a referral source for clinical trials.

Condition or disease
Neurofibromatosis 1 Neurofibromatosis 2 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.

Study Type : Observational [Patient Registry]
Estimated Enrollment : 10000 participants
Observational Model: Case-Only
Time Perspective: Other
Target Follow-Up Duration: 50 Years
Official Title: Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation
Study Start Date : June 2012
Estimated Primary Completion Date : June 2022
Estimated Study Completion Date : June 2050

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

Primary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): 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

Additional Information:
Responsible Party: The Children's Tumor Foundation Identifier: NCT01885767     History of Changes
Other Study ID Numbers: CTF001
First Posted: June 25, 2013    Key Record Dates
Last Update Posted: January 25, 2018
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: deidentified data only may be shared

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

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