Defining the Skin and Blood Biomarkers of Ichthyosis

NCT03417856 | Enrolling By Invitation

• 1 other identifier: 2014-15801
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 4

Brief Summary

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.

Conditions

Ichthyosis; Netherton Syndrome

Keywords

Ichthyosis; Netherton Syndrome

Outcome Measures

Primary Outcomes (2)

• Cellular infiltrates

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

  One year

• Gene expression

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

  One year

Secondary Outcomes (1)

• Correlation of biomarkers to quality of life

  One year

Study Arms (2)

Control

Healthy subjects with no history of ichthyosis from 1 year to 60 years of age.

Ichthyosis

Subjects with a diagnosis of Netherton syndrome or ichthyosis from 1 year to 60 years of age.

Eligibility Criteria

• Age: 1 Year - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

150 subjects (1 year to 60 years of age) with diagnosis of Netherton Syndrome or ichthyosis will be enrolled. Approximately 50 healthy controls will be enrolled. The blood sample, skin biopsy, and buccal/saliva sample may be obtained from the same ichthyosis subject. However there will be separate groups of control patients for the skin biopsies and blood sample studies.

You may qualify if:

• 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

You may not qualify if:

• Subjects who are unable to give informed consent or assent
• Subjects whose main diagnosis is deemed unsafe by the study investigator for study participation

Sponsors & Collaborators

• Northwestern University: lead
• Icahn School of Medicine at Mount Sinai: collaborator
• Galderma R&D: collaborator

Study Sites (4)

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

Northbrook Lurie Children's Outpatient Clinic

Chicago, Illinois, 60611, United States

Location

Northwestern University

Chicago, Illinois, 60611, United States

Location

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

We have retained whole blood and tissue samples (skin and cheek swabs)

MeSH Terms

Conditions

Ichthyosis; Netherton Syndrome

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Pediatric Dermatologist

Study Record Dates

• First Submitted: January 24, 2018
• First Posted: January 31, 2018
• Study Start: January 31, 2018
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: April 27, 2026

Record last verified: 2026-04

Locations

US (4)