- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03417856
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.
Study Overview
Status
Conditions
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 Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Amy Paller, MD
Study Contact Backup
- Name: Dermatology CTU
- Phone Number: 312-503-5944
- Email: NUderm-research@northwestern.edu
Study Locations
-
-
Illinois
-
Chicago, Illinois, United States, 60611
- Recruiting
- Northwestern University
-
Contact:
- Amy Paller, MD
- Phone Number: 312-695-3721
- Email: apaller@northwestern.edu
-
Chicago, Illinois, United States, 60611
- Recruiting
- Ann & Robert H. Lurie Children's Hospital of Chicago
-
Principal Investigator:
- Emma Guttman, MD
-
Principal Investigator:
- Amy Paller, MD
-
Contact:
- DermatologyCTU
- Phone Number: 312-503-5944
- Email: NUderm-research@northwestern.edu
-
Chicago, Illinois, United States, 60611
- Recruiting
- Northbrook Lurie Children's Outpatient Clinic
-
Contact:
- Amy Paller, MD
- Phone Number: 312-695-3721
- Email: apaller@northwestern.edu
-
-
New York
-
New York, New York, United States, 10029
- Recruiting
- Icahn School of Medicine at Mount Sinai
-
Contact:
- Emma Guttman, MD, PhD
- Phone Number: 212-241-9728
- Email: Emma.Guttman@mountsinai.org
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Cross-Sectional
Cohorts and Interventions
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.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Cellular infiltrates
Time Frame: One year
|
We will examine your skin and blood samples for various immune cells known to be involved in ichthyosis.
|
One year
|
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.
|
One year
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
One year
|
Collaborators and Investigators
Sponsor
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2014-15801
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Netherton Syndrome
-
Quoin PharmaceuticalsRecruitingNetherton SyndromeUnited States
-
Azitra Inc.Not yet recruiting
-
Daiichi SankyoRecruiting
-
Boehringer IngelheimRecruitingNetherton SyndromeBelgium, United Kingdom, Australia, Germany, China, Malaysia, Japan, France, United States, Israel, Bulgaria, Italy, Switzerland, Austria, Netherlands, Portugal
-
Great Ormond Street Hospital for Children NHS Foundation...Unknown
-
Quoin PharmaceuticalsRecruitingNetherton SyndromeUnited States
-
Sixera PharmaRecruitingNetherton SyndromeFrance
-
University Hospital, ToulouseMedSharingRecruiting
-
Children's Hospital of PhiladelphiaNovartis PharmaceuticalsCompletedNetherton SyndromeUnited States