Netherton SyndromeDERMABIOTENCT07280091
Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome
An observational study of Netherton Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Netherton Syndrome
- What is being tested?
- Superficial skin swabs, Stool samples and Saliva samples
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 26 May 2026to May 2028
- 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 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Refusal by parents/guardians, children, adolescents, or adults.
- General or local antibiotic therapy within the month preceding the consultation.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Necker Enfants Malades
Paris, Île-de-France Region, 75015
Christine BODEMER, PhD, 01 44 49 46 72 ext. +33, christine.bodemer@aphp.fr
Nathalia BELLON, Dr, 01 44 49 57 88 ext. +33, nathalia.bellon@aphp.fr
About this study
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.
Read the 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
- Being tested
- Superficial skin swabs, Stool samples, Saliva samples, Blood samples, Data-Collection
- Keywords
- Netherton syndrome, skin microbiome
- Medical subject headings
- Netherton Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Superficial skin swabsBiological
Sampling areas: (18 swabs in total + 6 swabs for routine skin mapping)
- Lesion area outside skin folds (e.g., back or limb)
- Healthy area outside skin folds (e.g., back or limb)
- Perioral area of the face
- Scalp
- Inguinal fold
- Axillary fold
Superficial skin swabsBiological
Three superficial skin swabs: same locations as for Netherton patients
Stool samplesBiological
A stool sample collected for analysis of the fecal microbiome and mycobiome.
Saliva samplesBiological
A saliva sample collected for analysis of the saliva microbiome and mycobiome.
Blood samplesBiological
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
Blood samplesBiological
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-CollectionOther
Socio-demographic data and lifestyle habits of the patient and parents
Data-CollectionOther
Clinical data, treatment data, and results of biological tests carried out as part of routine monitoring
| Study group | Role | What they receive |
|---|---|---|
| Patients with Netherton syndrome | 15 children, adolescents, and young adults with Netherton syndrome Receives: 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. Receives: Biological: Superficial skin swabs; Biological: Stool samples; Biological: Saliva samples; Biological: Blood samples; Other: Data-Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline
Secondary outcomes (5)
Change in microbiome signature
Identify any changes in the microbiome signature of patients with Netherton syndrome.
Measured: Baseline
Microbial interactions of the skin
Study the relationship between the different skin microbiome, mycobiome, and virome
Measured: Baseline
Circulating cytokine profiles
Study circulating cytokine profiles
Measured: Baseline
Markers of digestive inflammation
Study markers of digestive inflammation in stool samples
Measured: Baseline
Factors influencing the microbiota
Analyze parameters that may impact the microbiotes, including various elements from these patients medical histories.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Dec 2025
- Study start26 May 2026
- Primary completionMay 2028 (estimated)
- Study completionMay 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Netherton SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07280091
- Sponsor's protocol ID
- APHP250480
- Other IDs
- ID-RCB Number
- Acronym
- DERMABIOTE
- Status last verified
- Jun 2026
- First submitted
- 1 Dec 2025
- Last updated
- 30 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 30 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome
- ClinicalTrials.gov ID
- NCT07280091
- Acronym / sponsor ID
- DERMABIOTE / APHP250480
- Conditions
- Netherton Syndrome
- Keywords
- Netherton syndrome, skin microbiome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 26 May 2026 (actual)
- Primary completion
- May 2028 (estimated)
- Study completion
- May 2028 (estimated)
- First posted
- 12 Dec 2025 (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.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Netherton syndrome | – | Biological: Superficial skin swabs, Biological: Stool samples, Biological: Saliva samples, Biological: Blood samples, Other: Data-Collection15 children, adolescents, and young adults with Netherton syndrome |
| Control subjects | – | Biological: Superficial skin swabs, Biological: Stool samples, Biological: Saliva samples, Biological: Blood samples, Other: Data-Collection15 control subjects of the same age group and gender, treated at the service but with no dermatosis or inflammatory and/or autoimmune diseases. |
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (6 listed)
- 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
- 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.
Key exclusion criteria (2 listed)
- Refusal by parents/guardians, children, adolescents, or adults.
- General or local antibiotic therapy within the month preceding the consultation.
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 |
|---|---|---|
| Superficial skin swabsSampling 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 | Patients with Netherton syndrome |
| Superficial skin swabsThree superficial skin swabs: same locations as for Netherton patients | Biological | Control subjects |
| Stool samplesA stool sample collected for analysis of the fecal microbiome and mycobiome. | Biological | Control subjects, Patients with Netherton syndrome |
| Saliva samplesA saliva sample collected for analysis of the saliva microbiome and mycobiome. | Biological | Control subjects, Patients with Netherton syndrome |
| Blood samplesFor 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 | Control subjects |
| Blood samplesFor 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 | Patients with Netherton syndrome |
| Data-CollectionSocio-demographic data and lifestyle habits of the patient and parents | Other | Control subjects, Patients with Netherton syndrome |
| Data-CollectionClinical data, treatment data, and results of biological tests carried out as part of routine monitoring | Other | Patients with Netherton syndrome |
Primary outcome
Study of the skin, salivary and intestinal microbiota
Time frame: Baseline
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.
5 secondary outcomes
Change in microbiome signature
Time frame: Baseline
Microbial interactions of the skin
Time frame: Baseline
Circulating cytokine profiles
Time frame: Baseline
Markers of digestive inflammation
Time frame: Baseline
Factors influencing the microbiota
Time frame: Baseline
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 30 Jun 2026.
- Individual participant dataSharing planned: No
Related trials for Netherton Syndrome
Active, not recruitingPhase 1
A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of BCX17725
Netherton Syndrome
RecruitingPhase 2/3
Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome
Netherton Syndrome
RecruitingPhase 2/3
Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome
Netherton Syndrome
RecruitingPhase 2/3
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome
Netherton Syndrome
Enrolling by invitationObservational study
Defining the Skin and Blood Biomarkers of Ichthyosis
Ichthyosis, Netherton Syndrome
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.
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 Netherton Syndrome, run by Assistance Publique - Hôpitaux de Paris 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 6 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 30 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 Christine BODEMER, PhD (01 44 49 46 72 ext. +33, christine.bodemer@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Study of the skin, salivary and intestinal microbiota (time frame: Baseline). 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 30 Jun 2026.