RecruitingNCT07280091

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


Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

30 participants

Start Date

May 26, 2026

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Min Age: 10 Years

Inclusion Criteria6

  • 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 Criteria2

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

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Interventions

BIOLOGICALSuperficial 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

BIOLOGICALSuperficial skin swabs

Three superficial skin swabs: same locations as for Netherton patients

BIOLOGICALStool samples

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

BIOLOGICALSaliva samples

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

BIOLOGICALBlood 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

BIOLOGICALBlood 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

OTHERData-Collection

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

OTHERData-Collection

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


Locations(1)

Hôpital Necker Enfants Malades

Paris, Île-de-France Region, France

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NCT07280091


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