Single cell analysis in Netherton syndrome

Conditions: Comel-Netherton Syndrome
Netherton Syndrome
10014982

Registration Number: NL-OMON53598

Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 12

Inclusion Criteria

Patients with Netherton syndrome:
- A genetic diagnosis of Netherton syndrome
- Aged 18 years or above (adult)

Patients with atopic dermatitis (AD):
- Aged 18 years or above (adult)
- Dermatologist diagnosed atopic dermatitis (AD)
- AD lesion of at least 25x6mm

Patients with psoriasis:
- Aged 18 years or above (adult)
- Dermatologist diagnosed psoriasis
- Psoriasis lesion of at least 25x6mm

Exclusion Criteria

Exclusion criteria for Netherton syndrome (NS) patients, atopic dermatitis (AD)
patients, and psoriasis patients:
- Use of systemic treatment within a period of 5 half-lives (in the past week
to ~3 months depending on the type of medication)
- Bathing within 24-hours prior to the skin excision
- Application of a topical medication (e.g. topical corticosteroids, topical
calcineurin inhibitors, topical antibiotics) within 1 week before skin excision
- Active (haematological) malignancy
- Pregnancy or breastfeeding
- No skin lesion of 25x6mm on either trunk or extremities (arms, legs)

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameters are the difference in gene expression profile of skin<br /><br>(lesional and non-lesional) of patients with NS (using scRNA-seq, and spatial<br /><br>transcriptomics) from skin of healthy controls and the difference in gene<br /><br>expression profile of NS-ILC and NS-SE. Furthermore, lesional NS skin will be<br /><br>compared with lesional AD skin and lesional psoriasis skin. </p><br>

Secondary Outcome Measures