Neurofibromatosis 2NCT03893643
Cutaneous and Mucosal Manifestations of Neurofribromatosis Type 2 in Children Under 15
An observational study of Neurofibromatosis 2 and Dermatology/Skin - Other, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 0 to 15 years
- Conditions the study is for
- Neurofibromatosis 2, Dermatology/Skin - Other
- How many people
- 1,000 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jan 2019to 25 Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 15 years
- All sexes
- No healthy volunteers
- Child
Study population: patients with neurofibromatosis type 2
Who may be able to join
- age up to 15 years
- diagnosis of neurofibromatosis type 2
Who cannot join
- refusal to participate in the study
- informed consent that can not be obtained because of a disability or difficulties with a - language barrier
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Christine CHIAVERINI contact
France1 site, 1 recruiting
- Recruiting
Nice Hospital
Nice, 06000
Sophie LEGOUPIL, legoupil.sophie@hotmail.fr
Christine CHIAVERINI, chiaverini.c@chu-nice.fr
About this study
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
.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
- Being tested
- no intervention
- Medical subject headings
- Neurofibromatosis 2
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
no interventionOther
no intervention in an observational study
| Study group | Role | What they receive |
|---|---|---|
| pediatric population | Pediatric population aged 0 to 15 years with neurofibromatosis type 2 Receives: Other: no intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 3 years
Secondary outcomes (3)
number and type of neurological manifestations.
number and type of neurological clinical data, clinical examination
Measured: 3 years
number and type of descriptioin of ENT manifestations.
number and type of ENT clinical data, clinical examination
Measured: 3 years
number and type of ophthalmological manifestations.
number and type of ophtalmologic clinical data, clinical examination
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Mar 2019
- Study start1 Jan 2019
- Primary completion31 Dec 2022
- Study completion25 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis 2Studies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03893643
- Sponsor's protocol ID
- 18-DERMATO-01
- Status last verified
- Jun 2026
- First submitted
- 21 Jan 2019
- Last updated
- 29 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT03893643
- Acronym / sponsor ID
- 18-DERMATO-01
- Conditions
- Neurofibromatosis 2, Dermatology/Skin - Other
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 1 Jan 2019 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 25 Jun 2027 (estimated)
- First posted
- 28 Mar 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
.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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| pediatric population | – | Other: no interventionPediatric population aged 0 to 15 years with neurofibromatosis type 2 |
Who may qualify
- Ages
- 0 to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- patients with neurofibromatosis type 2
Key inclusion criteria (2 listed)
- age up to 15 years
- diagnosis of neurofibromatosis type 2
Key exclusion criteria (2 listed)
- refusal to participate in the study
- informed consent that can not be obtained because of a disability or difficulties with a - language barrier
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| no interventionno intervention in an observational study | Other | pediatric population |
Primary outcome
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 secondary outcomes
number and type of neurological manifestations.
Time frame: 3 years
number and type of descriptioin of ENT manifestations.
Time frame: 3 years
number and type of ophthalmological manifestations.
Time frame: 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Christine CHIAVERINI contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis 2 and Dermatology/Skin - Other, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sophie LEGOUPIL (336 81818020, sophie.legoupil@hotmail.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
number of cutaneo-mucous lesions present in children with neurofibromatosis type 2 (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Jun 2026.