Defining the Skin and Blood Biomarkers of Ichthyosis

Sponsor

Northwestern University (Other)

Overall Status

Recruiting

CT.gov ID

NCT03417856

Collaborator

Icahn School of Medicine at Mount Sinai (Other), Galderma R&D (Industry)

200

Enrollment

Locations

Anticipated Duration (Months)

Patients Per Site

0.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Ichthyosis Netherton Syndrome

Detailed Description

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

200 participants

Observational Model:

Case-Control

Time Perspective:

Cross-Sectional

Official Title:

Defining the Skin and Blood Biomarkers of Ichthyosis

Actual Study Start Date :

Jan 31, 2018

Anticipated Primary Completion Date :

Dec 31, 2023

Anticipated Study Completion Date :

Dec 31, 2023

Arms and Interventions

Arm	Intervention/Treatment
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.

Outcome Measures

Primary Outcome Measures

Cellular infiltrates [One year]
We will examine your skin and blood samples for various immune cells known to be involved in ichthyosis.
Gene expression [One year]
We will examine your skin and blood samples for various genes known to contribute to ichthyosis by analyzing RNA and cytokines.

Secondary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

1 Year to 60 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Ann & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois	United States	60611
2	Northbrook Lurie Children's Outpatient Clinic	Chicago	Illinois	United States	60611
3	Northwestern University	Chicago	Illinois	United States	60611
4	Icahn School of Medicine at Mount Sinai	New York	New York	United States	10029

Sponsors and Collaborators

Northwestern University
Icahn School of Medicine at Mount Sinai
Galderma R&D

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Amy Paller, Pediatric Dermatologist, Northwestern University

ClinicalTrials.gov Identifier:

NCT03417856

Other Study ID Numbers:

2014-15801

First Posted:

Jan 31, 2018

Last Update Posted:

Apr 6, 2022

Last Verified:

Apr 1, 2022

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Amy Paller, Pediatric Dermatologist, Northwestern University

Ichthyosis

Netherton Syndrome

Additional relevant MeSH terms:

Ichthyosis

Ichthyosis, Lamellar

Netherton Syndrome

Study Results

No Results Posted as of Apr 6, 2022