Neurofibromatosis (NF) Registry Portal

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

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.

Study Overview

• Status: Recruiting
• Conditions: 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, social media, 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 adult (over age 18) subjects via a web-based patient portal. The portal contains an IRB-approved informed consent form. Following consent, the registrant creates an account which is activated after email confirmation. 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, the account owner enrolls themselves or a minor family member (or both) and completes an on-line survey. There are separate surveys for NF1, NF2, and Schwannomatosis. The surveys 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. The account holder chooses whether to receive emails from the Registry with information about relevant clinical trials and studies for which they may be eligible.

Participant's responses are used to compile charts and graphics of de-identified aggregate data. Registered patients may view this data. Researchers may apply to our Data Use Committee for access to de-identified data or for subject recruitment emails to be sent 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
• Enrollment (Estimated): 20000

Contacts and Locations

• Study Contact: Name: Annette Bakker, Ph.D.; Phone Number: 212-344-7029; Email: abakker@ctf.org
• Study Contact Backup: Name: Kate Kelts, B.S.N.; Phone Number: 646-738-8567; Email: kkelts@ctf.org

Study Locations

• United States
  • New York
    • New York, New York, United States, 10017
      • Recruiting
      • Children's Tumor Fundation
      • Principal Investigator: Kate Kelts, B.S.N.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients affected with NF1, NF2, or Schwannomatosis

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Failure to complete account registration

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To create a natural history of NF1, NF2, and schwannomatosis	patients will input medical information and treatment information about their NF and update at least yearly in an ongoing natural history study	final report in 2050 with descriptive statistics

Collaborators and Investigators

• Sponsor: The Children's Tumor Foundation
• Investigators: Principal Investigator: Kate Kelts, B.S.N., The Children's Tumor Foundation

Publications and helpful links

Helpful Links

• NF Registry

Study record dates

Study Major Dates

• Study Start: June 1, 2012
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): June 1, 2050

Study Registration Dates

• First Submitted: May 22, 2013
• First Submitted That Met QC Criteria: June 19, 2013
• First Posted (Estimated): June 25, 2013

Study Record Updates

• Last Update Posted (Actual): August 30, 2023
• Last Update Submitted That Met QC Criteria: August 29, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Keywords: NF1; Neurofibromatosis; Neurofibromatosis 1; NF; NF2; Schwannomatosis; Neurofibromatosis 2
• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neuromuscular Diseases; Otorhinolaryngologic Neoplasms; Otorhinolaryngologic Diseases; Neurodegenerative Diseases; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Ear Diseases; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Cranial Nerve Diseases; Neuroendocrine Tumors; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Cranial Nerve Neoplasms; Neuroma, Acoustic; Neurilemmoma; Neuroma; Vestibulocochlear Nerve Diseases; Retrocochlear Diseases; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Neurofibromatosis 2
• Other Study ID Numbers: CTF001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: deidentified data only may be shared