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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

Tracking Information
First Submitted Date January 21, 2019
First Posted Date March 28, 2019
Last Update Posted Date March 28, 2019
Actual Study Start Date January 1, 2019
Estimated Primary Completion Date December 31, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 27, 2019)
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
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures
 (submitted: March 27, 2019)
  • number and type of neurological manifestations. [ Time Frame: 3 years ]
    number and type of neurological clinical data, clinical examination
  • number and type of descriptioin of ENT manifestations. [ Time Frame: 3 years ]
    number and type of ENT clinical data, clinical examination
  • number and type of ophthalmological manifestations. [ Time Frame: 3 years ]
    number and type of ophtalmologic clinical data, clinical examination
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Cutaneous and Mucosal Manifestations of Neurofribromatosis Type 2 in Children Under 15
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
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.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population patients with neurofibromatosis type 2
Condition
  • Neurofibromatosis 2
  • Dermatology/Skin - Other
Intervention Other: no intervention
no intervention in an observational study
Study Groups/Cohorts pediatric population
Pediatric population aged 0 to 15 years with neurofibromatosis type 2
Intervention: Other: no intervention
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: March 27, 2019)
1000
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 31, 2022
Estimated Primary Completion Date December 31, 2022   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages up to 15 Years   (Child)
Accepts Healthy Volunteers No
Contacts
Contact: Sophie LEGOUPIL 336 81818020 sophie.legoupil@hotmail.fr
Contact: Christine CHIAVERINI chiaverini.c@chu-nice.fr
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03893643
Other Study ID Numbers 18-DERMATO-01
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Centre Hospitalier Universitaire de Nice
Study Sponsor Centre Hospitalier Universitaire de Nice
Collaborators Not Provided
Investigators Not Provided
PRS Account Centre Hospitalier Universitaire de Nice
Verification Date January 2019