- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03893643
Cutaneous and Mucosal Manifestations of Neurofribromatosis Type 2 in Children Under 15
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
.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.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Sophie LEGOUPIL
- Phone Number: 336 81818020
- Email: sophie.legoupil@hotmail.fr
Study Contact Backup
- Name: Christine CHIAVERINI
- Email: chiaverini.c@chu-nice.fr
Study Locations
-
-
-
Nice, France, 06000
- Recruiting
- Nice hospital
-
Contact:
- Christine CHIAVERINI
- Email: chiaverini.c@chu-nice.fr
-
Contact:
- Sophie LEGOUPIL
- Email: legoupil.sophie@hotmail.fr
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
pediatric population
Pediatric population aged 0 to 15 years with neurofibromatosis type 2
|
no intervention in an observational study
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
|
3 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
number and type of neurological manifestations.
Time Frame: 3 years
|
number and type of neurological clinical data, clinical examination
|
3 years
|
number and type of descriptioin of ENT manifestations.
Time Frame: 3 years
|
number and type of ENT clinical data, clinical examination
|
3 years
|
number and type of ophthalmological manifestations.
Time Frame: 3 years
|
number and type of ophtalmologic clinical data, clinical examination
|
3 years
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Nervous System Diseases
- Neoplasms by Histologic Type
- Neoplasms
- Genetic Diseases, Inborn
- Neuromuscular Diseases
- Otorhinolaryngologic Neoplasms
- Otorhinolaryngologic Diseases
- Neurodegenerative Diseases
- Neuroectodermal Tumors
- Neoplasms, Germ Cell and Embryonal
- Neoplasms, Nerve Tissue
- Peripheral Nervous System Diseases
- Ear Diseases
- Nervous System Neoplasms
- Heredodegenerative Disorders, Nervous System
- Neoplastic Syndromes, Hereditary
- Cranial Nerve Diseases
- Neuroendocrine Tumors
- Nerve Sheath Neoplasms
- Neurocutaneous Syndromes
- Peripheral Nervous System Neoplasms
- Cranial Nerve Neoplasms
- Neuroma, Acoustic
- Neurilemmoma
- Neuroma
- Vestibulocochlear Nerve Diseases
- Retrocochlear Diseases
- Neurofibromatoses
- Neurofibromatosis 1
- Neurofibroma
- Neurofibromatosis 2
Other Study ID Numbers
- 18-DERMATO-01
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Neurofibromatosis 2
-
NYU Langone HealthNovartis Pharmaceuticals; The Children's Tumor FoundationCompletedNeurofibromatosis Type IIUnited States
-
Massachusetts Eye and Ear InfirmaryRecruiting
-
National Institute of Neurological Disorders and...Recruiting
-
Manchester University NHS Foundation TrustCompletedNeurofibromatosis Type 2United Kingdom
-
PTC TherapeuticsUnited States Department of DefenseTerminated
-
Recursion Pharmaceuticals Inc.RecruitingNeurofibromatosis Type 2United States
-
Jonsson Comprehensive Cancer CenterNovartis PharmaceuticalsTerminatedNeuroma, Acoustic | Neurofibromatosis Type 2United States
-
NYU Langone HealthCompletedNeurofibromatosis Type 2 | Vestibular SchwannomasUnited States
-
Li PengBetta Pharmaceuticals Co., Ltd.CompletedNeurofibromatosis Type 2 | Vestibular SchwannomaChina
-
National Cancer Institute (NCI)CompletedNeurofibromatosis Type 2 | Vestibular SchwannomaUnited States
Clinical Trials on no intervention
-
Wave NeuroscienceCompletedAutistic DisorderUnited States
-
University of Alabama at BirminghamCompletedInflammatory Bowel Diseases | Colorectal Cancer | Diverticular Diseases | Social BehaviorUnited States
-
Janssen Research & Development, LLCCompletedLupus Erythematosus, Systemic | Lupus Erythematosus, Cutaneous | Lupus Erythematosus, DiscoidUnited States, Poland
-
Hospital Universitario La Paz3MVX CCB and Agaplesion Markus Krankenhaus, Frankfurt a.M., Germany.; Department...RecruitingEmbolism | Atrial Fibrillation | Arrhythmia | Stroke, Acute | Stroke Sequelae | AblationSpain
-
Southern California College of Optometry at Marshall...Ohio State University; University of Houston; Alcon Research; University of Waterloo and other collaboratorsCompletedContact Lens Complication | Contact Lens Acute Red Eye | Contact Lens Related Corneal Infiltrate (Disorder) | Contact Lens-Induced Corneal Fluorescein StainingUnited States, Canada
-
University of Dublin, Trinity CollegeCompleted
-
Hôpital Necker-Enfants MaladesUnknown
-
China Medical University HospitalUnknownIntention to Stay, Turnover Behavior
-
University of PittsburghCompletedChronic Low Back PainUnited States