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

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ClinicalTrials.gov Identifier: NCT03893643
Recruitment Status : Recruiting
First Posted : March 28, 2019
Last Update Posted : March 28, 2019
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice

Brief Summary:

.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.


Condition or disease Intervention/treatment
Neurofibromatosis 2 Dermatology/Skin - Other Other: no intervention

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: 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
Actual Study Start Date : January 1, 2019
Estimated Primary Completion Date : December 31, 2022
Estimated Study Completion Date : December 31, 2022


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




Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. number and type of neurological manifestations. [ Time Frame: 3 years ]
    number and type of neurological clinical data, clinical examination

  2. number and type of descriptioin of ENT manifestations. [ Time Frame: 3 years ]
    number and type of ENT clinical data, clinical examination

  3. number and type of ophthalmological manifestations. [ Time Frame: 3 years ]
    number and type of ophtalmologic clinical data, clinical examination



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Ages Eligible for Study:   up to 15 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
patients with neurofibromatosis type 2
Criteria

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

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 ClinicalTrials.gov identifier (NCT number): NCT03893643


Contacts
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Contact: Sophie LEGOUPIL 336 81818020 sophie.legoupil@hotmail.fr
Contact: Christine CHIAVERINI chiaverini.c@chu-nice.fr

Locations
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France
Nice Hospital Recruiting
Nice, France, 06000
Contact: Sophie LEGOUPIL       legoupil.sophie@hotmail.fr   
Contact: Christine CHIAVERINI       chiaverini.c@chu-nice.fr   
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice

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Responsible Party: Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT03893643     History of Changes
Other Study ID Numbers: 18-DERMATO-01
First Posted: March 28, 2019    Key Record Dates
Last Update Posted: March 28, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Neurofibromatosis 2
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
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
Neurilemmoma
Neuroendocrine Tumors
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neuroma
Vestibulocochlear Nerve Diseases
Retrocochlear Diseases
Ear Diseases
Otorhinolaryngologic Diseases
Otorhinolaryngologic Neoplasms
Cranial Nerve Neoplasms