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NCT Number: NCT03893643

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

.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.

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Key information

Conditions

Neurofibromatosis 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases Cranial Nerve Neoplasms Dermatology/Skin - Other Ear Diseases Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Neoplasms Neoplasms by Histologic Type Neoplasms, Germ Cell and Embryonal Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Neurilemmoma Neurocutaneous Syndromes Neurodegenerative Diseases Neuroectodermal Tumors Neuroendocrine Tumors Neurofibroma Neurofibromatoses Neuroma Neuroma, Acoustic Otorhinolaryngologic Diseases Otorhinolaryngologic Neoplasms Retrocochlear Diseases Vestibulocochlear Nerve Diseases

Age range

0 year–15 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

No intervention

Other

no intervention in an observational study

Primary outcomes

  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 outcomes

  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

Study contacts

Contact information is provided by the study sponsor or research team.

Christine CHIAVERINI

CONTACT

[email protected]

Sophie LEGOUPIL

CONTACT

[email protected]

336 81818020

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Nice

Other

Registry information

Official study 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

Important dates

Study start
2019
Primary completion
2022
Study completion
2027
First posted
Mar 28, 2019
Registry last updated
Jun 29, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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