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Defining the Skin and Blood Biomarkers of Ichthyosis

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ClinicalTrials.gov Identifier: NCT03417856
Recruitment Status : Recruiting
First Posted : January 31, 2018
Last Update Posted : November 5, 2018
Sponsor:
Collaborators:
Icahn School of Medicine at Mount Sinai
Galderma
Information provided by (Responsible Party):
Amy Paller, Northwestern University

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
Ichthyosis Netherton Syndrome

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.

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Study Type : Observational
Estimated 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 : January 31, 2018
Estimated Primary Completion Date : December 31, 2019
Estimated Study Completion Date : December 31, 2020


Group/Cohort
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.



Primary Outcome Measures :
  1. Cellular infiltrates [ Time Frame: One year ]
    We will examine your skin and blood samples for various immune cells known to be involved in ichthyosis.

  2. 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 Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples With DNA
We have retained whole blood and tissue samples (skin and cheek swabs)


Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 60 Years   (Child, Adult)
Sexes Eligible for Study:   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.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03417856


Contacts
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Contact: Dermatology CTU 312-503-5944 NUderm-research@northwestern.edu
Contact: Amy Paller, MD

Locations
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United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60611
Contact: DermatologyCTU    312-503-5944    NUderm-research@northwestern.edu   
Principal Investigator: Amy Paller, MD         
Principal Investigator: Emma Guttman, MD         
Northbrook Lurie Children's Outpatient Clinic Recruiting
Chicago, Illinois, United States, 60611
Contact: Amy Paller, MD    312-695-3721    apaller@northwestern.edu   
Northwestern University Recruiting
Chicago, Illinois, United States, 60611
Contact: Amy Paller, MD    312-695-3721    apaller@northwestern.edu   
United States, New York
Icahn School of Medicine at Mount Sinai Recruiting
New York, New York, United States, 10029
Contact: Emma Guttman, MD, PhD    212-241-9728    Emma.Guttman@mountsinai.org   
Sponsors and Collaborators
Northwestern University
Icahn School of Medicine at Mount Sinai
Galderma

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Responsible Party: Amy Paller, Pediatric Dermatologist, Northwestern University
ClinicalTrials.gov Identifier: NCT03417856     History of Changes
Other Study ID Numbers: 2014-15801
First Posted: January 31, 2018    Key Record Dates
Last Update Posted: November 5, 2018
Last Verified: November 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Amy Paller, Northwestern University:
Ichthyosis
Netherton Syndrome
Additional relevant MeSH terms:
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Ichthyosis
Ichthyosis, Lamellar
Netherton Syndrome
Skin Abnormalities
Congenital Abnormalities
Infant, Newborn, Diseases
Keratosis
Skin Diseases
Ichthyosiform Erythroderma, Congenital
Skin Diseases, Genetic
Genetic Diseases, Inborn
Abnormalities, Multiple