Single cell analysis in Netherton syndrome

Single cell analysis in Netherton syndrome - SCANS

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53598

Enrollment

Registered

2022-11-16

Start date

2022-11-01

Completion date

Unknown

Last updated

2025-09-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Comel-Netherton Syndrome Netherton Syndrome

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

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: 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)

Design outcomes

Primary

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

Secondary

Measure	Time frame
Secondary endpoints of this study are: - Comparison of the gene expression profile (using scRNA-seq and spatial transcriptomics) in the lesional skin of NS patients with lesional skin in AD, and lesional skin in psoriasis - Comparison of the expression profile using scRNA-seq and spatial transcriptomics with bulk-RNA sequencing in and between all previously mentioned subgroups (lesional NS, non-lesional NS, ILC-NS, SE-NS, lesional AD, lesional psoriasis, and healthy controls). - Comparison of the gene expression profile with immunohistochemistry in the skin of NS, AD, psoriasis, and healthy control skin and to compare immunohistochemical differences amongst subgroups. - Correlation of the knowledge on the skin inflammation signature of NS with the systemic inflammation signature, analyzed by measured serum cytokine levels and phenotyping of peripheral blood immune cells (PBMCs) compared to psoriasis, AD, and healthy controls.	—

Measure

Time frame

Secondary endpoints of this study are: - Comparison of the gene expression profile (using scRNA-seq and spatial transcriptomics) in the lesional skin of NS patients with lesional skin in AD, and lesional skin in psoriasis - Comparison of the expression profile using scRNA-seq and spatial transcriptomics with bulk-RNA sequencing in and between all previously mentioned subgroups (lesional NS, non-lesional NS, ILC-NS, SE-NS, lesional AD, lesional psoriasis, and healthy controls). - Comparison of the gene expression profile with immunohistochemistry in the skin of NS, AD, psoriasis, and healthy control skin and to compare immunohistochemical differences amongst subgroups. - Correlation of the knowledge on the skin inflammation signature of NS with the systemic inflammation signature, analyzed by measured serum cytokine levels and phenotyping of peripheral blood immune cells (PBMCs) compared to psoriasis, AD, and healthy controls.

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Countries

Netherlands

Outcome results