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Enrolling by invitationNCT03417856Updated Apr 27, 2026

Defining the Skin and Blood Biomarkers of Ichthyosis

An observational study in Ichthyosis and Netherton Syndrome, sponsored by Northwestern University. Enrolling by invitation at 4 sites in United States. Open to participants aged 1 Year to 60 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-04-27.

Sponsored by Northwestern University · Observational

Study type
Observational
Model
Case-control
Time perspective
Cross-sectional
Enrollment
200
Ages
1 Year to 60 Years
Sex
All
01

Study 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.

Read the detailed description

Objectives:

  1. To define a panel of skin and blood biomarkers associated with disease activity and pruritus in Netherton syndrome, lamellar ichthyosis, and other ichthyosis subtypes.
  2. To determine if blood samples can serve as surrogates for skin immune activation and will correlate with disease severity.
  3. To determine FLG, SPINK5, TGM1, or other mutation via buccal/saliva samples in ichthyosis subjects
  4. 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.
02

Conditions studied

  • Ichthyosis
  • Netherton Syndrome

Keywords

  • Ichthyosis
  • Netherton Syndrome
03

Who can participate

Ages eligible
1 Year to 60 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
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.

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

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
04

Study design

Observational model
Case-control
Time perspective
Cross-sectional
Enrollment
200 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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.

05

What researchers measure

Primary outcomes

  1. Cellular infiltrates

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

    Time frame: One year

  2. Gene expression

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

    Time frame: One year

Secondary outcomes

  1. Correlation of biomarkers to quality of life

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

    Time frame: One year

06

Study locations

4 sites
  • Ann & Robert H. Lurie Children's Hospital of Chicago
    Chicago, Illinois 60611, United States
  • Northbrook Lurie Children's Outpatient Clinic
    Chicago, Illinois 60611, United States
  • Northwestern University
    Chicago, Illinois 60611, United States
  • Icahn School of Medicine at Mount Sinai
    New York, New York 10029, United States
07

Registry details

Key details

Study ID
NCT03417856
Lead sponsor
Northwestern University
Collaborators
Icahn School of Medicine at Mount Sinai, Galderma R&D
Responsible party
Amy Paller (Pediatric Dermatologist, Northwestern University) — Principal investigator
First posted
Jan 31, 2018
Start date
Jan 31, 2018
Primary completion
Dec 2027 (estimated)
Completion
Dec 2027 (estimated)
Last update
Apr 27, 2026

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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