Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome

NCT ID: NCT07280091

Last Updated: 2025-12-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-12-31

Study Completion Date

2027-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

It is proposed to conduct an exploratory study to analyze the skin, intestinal, and salivary microbiome, as well as the skin mycobiome and virome, of patients (adolescents and young adults) with Netherton syndrome, a condition characterized by an impaired skin barrier that most likely promotes the development of allergic manifestations.

The study will be conducted on patients with Netherton syndrome and control subjects in order to investigate possible correlation factors between the three microbiomes and identify which ones.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Netherton syndrome (NS) is a genodermatosis characterized by the combination of (i) pruritic erythematous-squamous skin lesions, often erythrodermic, with inflammatory skin flare-ups, (ii) frequent hypernatremic dehydration in the neonatal period, (iii) food allergies with increased IgE levels, and (iv) growth retardation. Autosomal recessive in transmission, it is linked to mutations in the SPINK5 gene encoding the LEKTI protein, leading to abnormalities in epithelial barriers, particularly in the skin and esophagus. Digestive disorders such as abdominal pain, chronic diarrhea, or eosinophilic digestive disorders are common, as described by the dermatology team at Necker-Enfants Malades Hospital, MAGEC center. Thus, NS is a model of a rare disease combining skin inflammation and impaired epithelial barriers. It is essential to define all therapeutic strategies that can relieve patients of what is currently a chronic, severe, and orphan disease. Currently, there is no specific treatment available. The permeability of the skin barrier means that treatment with topical corticosteroids should be avoided as much as possible. Their use therefore remains very limited.

Recent data concerning the study of the skin microbiome of patients with SN have confirmed the presence of dysbiosis and shown the over-representation of Staphylococcus aureus and epidermidis strains, as well as the harmful role of certain proteases produced or stimulated by these strains. However, these studies involved a limited number of patients (a maximum of 10 NS patients), all adults, and did not include skin sampling sites of particular interest, such as skin folds in patients with chronic vegetative cellulitis, which is rarely described but observed in some NS patients. Furthermore, although these patients frequently present with digestive disorders, the digestive microbiome has never been studied in NS. A comparison between studies of the skin and digestive microbiome in systemic inflammatory diseases such as NS throughout life remains unprecedented.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Netherton Syndrome

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

Netherton syndrome skin microbiome

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients with Netherton syndrome

15 children, adolescents, and young adults with Netherton syndrome

Superficial skin swabs

Intervention Type BIOLOGICAL

Sampling areas: (18 swabs in total + 6 swabs for routine skin mapping)

1. Lesion area outside skin folds (e.g., back or limb)
2. Healthy area outside skin folds (e.g., back or limb)
3. Perioral area of the face
4. Scalp
5. Inguinal fold
6. Axillary fold

Stool samples

Intervention Type BIOLOGICAL

A stool sample collected for analysis of the fecal microbiome and mycobiome.

Saliva samples

Intervention Type BIOLOGICAL

A saliva sample collected for analysis of the saliva microbiome and mycobiome.

Blood samples

Intervention Type BIOLOGICAL

For group A: cytokine profile from an additional blood sample taken during a blood draw for treatment For group B: cytokine profile if there is any residual blood sample from the treatment

Data-Collection

Intervention Type OTHER

Socio-demographic data and lifestyle habits of the patient and parents

Data-Collection

Intervention Type OTHER

Clinical data, treatment data, and results of biological tests carried out as part of routine monitoring

Control subjects

15 control subjects of the same age group and gender, treated at the service but with no dermatosis or inflammatory and/or autoimmune diseases.

Superficial skin swabs

Intervention Type BIOLOGICAL

Three superficial skin swabs: same locations as for Netherton patients

Stool samples

Intervention Type BIOLOGICAL

A stool sample collected for analysis of the fecal microbiome and mycobiome.

Saliva samples

Intervention Type BIOLOGICAL

A saliva sample collected for analysis of the saliva microbiome and mycobiome.

Blood samples

Intervention Type BIOLOGICAL

For group A: cytokine profile from an additional blood sample taken during a blood draw for treatment For group B: cytokine profile if there is any residual blood sample from the treatment

Data-Collection

Intervention Type OTHER

Socio-demographic data and lifestyle habits of the patient and parents

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Superficial skin swabs

Sampling areas: (18 swabs in total + 6 swabs for routine skin mapping)

1. Lesion area outside skin folds (e.g., back or limb)
2. Healthy area outside skin folds (e.g., back or limb)
3. Perioral area of the face
4. Scalp
5. Inguinal fold
6. Axillary fold

Intervention Type BIOLOGICAL

Superficial skin swabs

Three superficial skin swabs: same locations as for Netherton patients

Intervention Type BIOLOGICAL

Stool samples

A stool sample collected for analysis of the fecal microbiome and mycobiome.

Intervention Type BIOLOGICAL

Saliva samples

A saliva sample collected for analysis of the saliva microbiome and mycobiome.

Intervention Type BIOLOGICAL

Blood samples

For group A: cytokine profile from an additional blood sample taken during a blood draw for treatment For group B: cytokine profile if there is any residual blood sample from the treatment

Intervention Type BIOLOGICAL

Blood samples

For group A: cytokine profile from an additional blood sample taken during a blood draw for treatment For group B: cytokine profile if there is any residual blood sample from the treatment

Intervention Type BIOLOGICAL

Data-Collection

Socio-demographic data and lifestyle habits of the patient and parents

Intervention Type OTHER

Data-Collection

Clinical data, treatment data, and results of biological tests carried out as part of routine monitoring

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

Group A:

* Children aged 10 years and older and adults with confirmed Netherton syndrome diagnosed at age 10 years or older (clinical and histological and/or molecular)
* Patients and legal guardians informed about the study and not opposed to participation in the study

Group B:

* Children aged 10 years and older and adults with no skin barrier impairment, dermatosis, inflammatory disease, or autoimmune disease.
* Subjects and legal guardians informed about the study and who do not object to participation in the study.

Exclusion Criteria

* Refusal by parents/guardians, children, adolescents, or adults.
* General or local antibiotic therapy within the month preceding the consultation.
Minimum Eligible Age

10 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Hôpital Necker Enfants Malades

Paris, Île-de-France Region, France

Site Status

Countries

Review the countries where the study has at least one active or historical site.

France

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Christine BODEMER, PhD

Role: CONTACT

Phone: 01 44 49 46 72

Email: [email protected]

Victor BRUYERE, MSc

Role: CONTACT

Phone: 01 34 29 23 24

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Christine BODEMER, PhD

Role: primary

Nathalia BELLON, Dr

Role: backup

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

ID-RCB Number

Identifier Type: OTHER

Identifier Source: secondary_id

APHP250480

Identifier Type: -

Identifier Source: org_study_id