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

NCT07280091 | Not Yet Recruiting

• 2 other identifiers: APHP250480ID-RCB Number
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Netherton Syndrome

Keywords

Netherton syndrome; skin microbiome

Outcome Measures

Primary Outcomes (1)

• Study of the skin, salivary and intestinal microbiota

  Analyse the skin microbiome, mycobiome, and virome, as well as the intestinal and salivary microbiome of patients with Netherton syndrome in comparison with healthy controls.

  Baseline

Secondary Outcomes (5)

• Change in microbiome signature

  Baseline

• Microbial interactions of the skin

  Baseline

• Circulating cytokine profiles

  Baseline

• Markers of digestive inflammation

  Baseline

• Factors influencing the microbiota

  Baseline

Study Arms (2)

Patients with Netherton syndrome

15 children, adolescents, and young adults with Netherton syndrome

Biological: Superficial skin swabs; Biological: Stool samples; Biological: Saliva samples; Biological: Blood samples; Other: Data-Collection

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.

Biological: Superficial skin swabs; Biological: Stool samples; Biological: Saliva samples; Biological: Blood samples; Other: Data-Collection

Interventions

Stool samples BIOLOGICAL

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

Control subjects; Patients with Netherton syndrome

Superficial skin swabs 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

Patients with Netherton syndrome

Saliva samples BIOLOGICAL

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

Control subjects; Patients with Netherton syndrome

Blood samples 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

Control subjects

Data-Collection OTHER

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

Control subjects; Patients with Netherton syndrome

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Inclusion of children, adolescents, and young adults with Netherton syndrome, and control subjects of the same age and sex, treated at the service but without dermatosis or inflammatory and/or autoimmune diseases.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• URC-CIC Paris Descartes Necker Cochin: collaborator
• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Necker Enfants Malades

Paris, Île-de-France Region, 75015, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Superficial skin swabs, Stool, Saliva

MeSH Terms

Conditions

Netherton Syndrome

Interventions

Blood Specimen Collection; Data Collection

Condition Hierarchy (Ancestors)

Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Skin Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Infant, Newborn, Diseases; Keratosis; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Epidemiologic Methods; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Christine BODEMER, PhD

CONTACT

01 44 49 46 72; christine.bodemer@aphp.fr

Victor BRUYERE, MSc

CONTACT

01 34 29 23 24; victor.bruyere@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 1, 2025
• First Posted: December 12, 2025
• Study Start: December 1, 2025
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: December 23, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)