Defining the Skin and Blood Biomarkers of Ichthyosis

Ichthyosis is a group of genetic skin disorders that present with dry, thickened, scaly, or flaky skin. As of today, there is no cure or treatment. Doctors can only treat the dry skin with different types of emollients to soften the scale. A deeper understanding of this disease is required to develop better treatments. There are different types of cells and cell-produced signals (biomarkers) that are being studied in order to help find these new treatments. Looking at biomarkers has been successful in helping us to understand other skin disorders better. The purpose of this study is to determine which blood and skin biomarkers characterize ichthyosis.

Hypothesis: We predict that the biomarkers correlating with disease activity in Netherton syndrome will be different than the biomarkers found to correlate with the lamellar and other ichthyosis phenotype.

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Key information

Conditions

Ichthyosis Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Ichthyosiform Erythroderma, Congenital Infant, Newborn, Diseases Keratosis Netherton Syndrome Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

1 year–60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States

About this study

Objectives:

To define a panel of skin and blood biomarkers associated with disease activity and pruritus in Netherton syndrome, lamellar ichthyosis, and other ichthyosis subtypes.
To determine if blood samples can serve as surrogates for skin immune activation and will correlate with disease severity.
To determine FLG, SPINK5, TGM1, or other mutation via buccal/saliva samples in ichthyosis subjects
To determine differences in alterations of epidermal lipids and proteins in the outer stratum corneum of epidermis collected from tape strips in patients with ichthyosis compared to the general population. There will also be a difference detected in epidermal lipids from blood samples.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Control and ichthyosis subjects may be of either sex and must be between 1-60 years of age at the time of enrollment
Ichthyosis subjects include individuals with a diagnosis Netherton syndrome, lamellar ichthyosis, or other ichthyosis subtypes
Ichthyosis subjects should not have administered systemic immunosuppressant therapy in the month before the study
Ichthyosis subjects should not use topical immunosuppressants in the week before the study
Ichthyosis subjects should not have applied emollients to the planned biopsy sites within 12 hours before biopsy, but can be applied elsewhere
Controls may have no inflammatory disease, atopy, or obvious xerosis (urticaria, food allergy, allergic rhinitis or conjunctivitis, asthma)
Controls for skin sampling may have no observable abnormality in the sampled skin and, to further assure the normality of the "normal" skin edges, must not have evidence of inflammation or epidermal change in the lesion to be surgically removed
Subjects and guardians of minors must sign the approved IRB consent form(s) prior to initiation of the study protocol

Exclusion criteria

Subjects who are unable to give informed consent or assent
Subjects who administered anti-inflammatory systemic and topical therapy or emollients that do not comply with inclusion criteria prior to blood and biopsy sampling
Subjects whose main diagnosis is deemed unsafe by the study investigator for study participation

Treatment and study plan

Primary outcomes

Cellular infiltrates

Time frame: One year

We will examine your skin and blood samples for various immune cells known to be involved in ichthyosis.
Gene expression

Time frame: One year

We will examine your skin and blood samples for various genes known to contribute to ichthyosis by analyzing RNA and cytokines.

Secondary outcomes

Correlation of biomarkers to quality of life

Time frame: One year

We will analyze the blood and tissue biomarkers to determine whether they are comparable to quality of life and itch (pruritus) measures.

Sponsors and collaborators

Lead sponsor

Northwestern University

Other

Collaborators

Galderma R&D
Icahn School of Medicine at Mount Sinai

Registry information

Important dates

Study start: 2018
Primary completion: 2027
Study completion: 2027
First posted: Jan 31, 2018
Registry last updated: Apr 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed