NCT07280091

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

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 30 (estimated)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 10 Years
• Healthy volunteers: Not accepted

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.

Detailed description

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

• Netherton Syndrome

Interventions

Type	Name	Description
BIOLOGICAL	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
BIOLOGICAL	Superficial skin swabs	Three superficial skin swabs: same locations as for Netherton patients
BIOLOGICAL	Stool samples	A stool sample collected for analysis of the fecal microbiome and mycobiome.
BIOLOGICAL	Saliva samples	A saliva sample collected for analysis of the saliva microbiome and mycobiome.
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
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
OTHER	Data-Collection	Socio-demographic data and lifestyle habits of the patient and parents
OTHER	Data-Collection	Clinical data, treatment data, and results of biological tests carried out as part of routine monitoring

Timeline

• Start date: 2025-12-01
• Primary completion: 2027-12-01
• Completion: 2027-12-01
• First posted: 2025-12-12
• Last updated: 2025-12-23

Locations

1 site across 1 country: France