Cutaneous and Mucosal Manifestations of Neurofribromatosis Type 2 in Children Under 15

March 27, 2019 updated by: Centre Hospitalier Universitaire de Nice

Multicentre Prospective Observational Study: Resentment of Mucocutaneous Manifestations and the Value of Dermatological Examination in the Early Detection of Type 2 Neurofibromatosis in Children Under 15 Years of Age

.Neurofibromatosis type 2 is an inherently autosomal dominant genetic disease, but cases of mosaicism or de novo mutation are not uncommon. the prevalence is estimated at 1 / 60,000. the clinical presentation is based on the appearance of tumors in the central and peripheral nervous system. The current average age of diagnosis is around 25 to 30 years depending on the studies. Currently, the diagnostic criteria are based on the ENT, neurological and opthalmological manifestations of the disease. Cutaneous manifestations have been described in these patients. Except now, mucocutaneous manifestations of the disease are not taken into account for depisatage or diagnosis.

The purpose of this study would be to identify the different cutaneous and mucosal manifestations in a pediatric population under 15 years of age, and to analyze whether this might be of interest in early detection of the disease in association with other symptoms.

Study Overview

Status

Unknown

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 15 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

patients with neurofibromatosis type 2

Description

Inclusion Criteria:

  • age up to 15 years
  • diagnosis of neurofibromatosis type 2

Exclusion Criteria:

  • refusal to participate in the study
  • informed consent that can not be obtained because of a disability or difficulties with a - language barrier

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
pediatric population
Pediatric population aged 0 to 15 years with neurofibromatosis type 2
no intervention in an observational study

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
number of cutaneo-mucous lesions present in children with neurofibromatosis type 2
Time Frame: 3 years
number of cutaneo-mucous lesions obtain after complete dermatological clinical examination ; if possible take photographs for publication with the patient's consent ; histological results if cutaneous biopsies were performed outside the study
3 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
number and type of neurological manifestations.
Time Frame: 3 years
number and type of neurological clinical data, clinical examination
3 years
number and type of descriptioin of ENT manifestations.
Time Frame: 3 years
number and type of ENT clinical data, clinical examination
3 years
number and type of ophthalmological manifestations.
Time Frame: 3 years
number and type of ophtalmologic clinical data, clinical examination
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2019

Primary Completion (Anticipated)

December 31, 2022

Study Completion (Anticipated)

December 31, 2022

Study Registration Dates

First Submitted

January 21, 2019

First Submitted That Met QC Criteria

March 27, 2019

First Posted (Actual)

March 28, 2019

Study Record Updates

Last Update Posted (Actual)

March 28, 2019

Last Update Submitted That Met QC Criteria

March 27, 2019

Last Verified

January 1, 2019

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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