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

NCT03893643 | Unknown

• 1 other identifier: 18-DERMATO-01
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis 2; Dermatology/Skin - Other

Outcome Measures

Primary Outcomes (1)

• number of cutaneo-mucous lesions present in children with neurofibromatosis type 2

  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 Outcomes (3)

• number and type of neurological manifestations.

  3 years

• number and type of descriptioin of ENT manifestations.

  3 years

• number and type of ophthalmological manifestations.

  3 years

Study Arms (1)

pediatric population

Pediatric population aged 0 to 15 years with neurofibromatosis type 2

Other: no intervention

Interventions

no intervention OTHER

no intervention in an observational study

pediatric population

Eligibility Criteria

• Age: Up to 15 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

patients with neurofibromatosis type 2

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (1)

Nice Hospital

Nice, 06000, France

RECRUITING

MeSH Terms

Conditions

Neurofibromatosis 2

Condition Hierarchy (Ancestors)

Neuroma, Acoustic; Neurilemmoma; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neuroma; Neoplastic Syndromes, Hereditary; Vestibulocochlear Nerve Diseases; Retrocochlear Diseases; Ear Diseases; Otorhinolaryngologic Diseases; Otorhinolaryngologic Neoplasms; Cranial Nerve Neoplasms; Cranial Nerve Diseases; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Sophie LEGOUPIL

CONTACT

336 81818020; sophie.legoupil@hotmail.fr

Christine CHIAVERINI

CONTACT

chiaverini.c@chu-nice.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 21, 2019
• First Posted: March 28, 2019
• Study Start: January 1, 2019
• Primary Completion: December 31, 2022
• Study Completion: December 31, 2022
• Last Updated: March 28, 2019

Record last verified: 2019-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)