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

NCT ID: NCT03893643

Last Updated: 2019-03-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-01-01

Study Completion Date

2022-12-31

Brief Summary

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.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.

Detailed Description

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Conditions

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Neurofibromatosis 2 Dermatology/Skin - Other

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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pediatric population

Pediatric population aged 0 to 15 years with neurofibromatosis type 2

no intervention

Intervention Type OTHER

no intervention in an observational study

Interventions

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no intervention

no intervention in an observational study

Intervention Type OTHER

Eligibility Criteria

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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
Maximum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Centre Hospitalier Universitaire de Nice

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Nice Hospital

Nice, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Sophie LEGOUPIL

Role: CONTACT

336 81818020

Christine CHIAVERINI

Role: CONTACT

Facility Contacts

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Sophie LEGOUPIL

Role: primary

Christine CHIAVERINI

Role: backup

Other Identifiers

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18-DERMATO-01

Identifier Type: -

Identifier Source: org_study_id

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