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

Neurofibromatosis 2 Clinical Trial

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03893643
• Other study ID #: 18-DERMATO-01
• Status: Recruiting
• Start date: January 1, 2019
• Est. completion date: December 31, 2022

Study information

• Verified date: January 2019
• Source: Centre Hospitalier Universitaire de Nice
• Contact: Sophie LEGOUPIL
• Phone: 336 81818020
• Email: sophie.legoupil[@]hotmail.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: December 31, 2022
• Est. primary completion date: December 31, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 15 Years

Eligibility

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

Related Conditions & MeSH terms

• Dermatology/Skin - Other
• Neurofibroma
• Neurofibromatoses
• Neurofibromatosis 1
• Neurofibromatosis 2

Intervention

Other:
• no intervention
no intervention in an observational study

Locations

Country	Name	City	State
France	Nice Hospital	Nice

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Nice

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	number and type of neurological manifestations.	number and type of neurological clinical data, clinical examination	3 years
Secondary	number and type of descriptioin of ENT manifestations.	number and type of ENT clinical data, clinical examination	3 years
Secondary	number and type of ophthalmological manifestations.	number and type of ophtalmologic clinical data, clinical examination	3 years