IchthyosisNCT03417856
Defining the Skin and Blood Biomarkers of Ichthyosis
An observational study of Ichthyosis and Netherton Syndrome, run by Northwestern University at 4 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Ichthyosis, Netherton Syndrome
- How many people
- 200 participants
- Where
- 4 sitesUnited States
- Study dates
- 31 Jan 2018to Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 60 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States4 sites
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Northbrook Lurie Children's Outpatient Clinic
Chicago, Illinois, 60611
Northwestern University
Chicago, Illinois, 60611
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
About this study
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:
- 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.
- Conditions
- Ichthyosis, Netherton Syndrome
- Keywords
- Ichthyosis, Netherton Syndrome
- Medical subject headings
- Ichthyosis, Netherton Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Cellular infiltrates
We will examine your skin and blood samples for various immune cells known to be involved in ichthyosis.
Measured: 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.
Measured: 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.
Measured: One year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jan 2018
- Study start31 Jan 2018
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for IchthyosisStudies of the same condition, open and under way.
- More trials run by Northwestern UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Northwestern University
- Sponsor type
- University, hospital or other
- Collaborators
- Icahn School of Medicine at Mount Sinai, Galderma R&D
- Responsible party
- Principal investigator, Amy Paller, Northwestern University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03417856
- Sponsor's protocol ID
- 2014-15801
- Other IDs
- 2014
- Status last verified
- Apr 2026
- First submitted
- 24 Jan 2018
- Last updated
- 27 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Defining the Skin and Blood Biomarkers of Ichthyosis
- ClinicalTrials.gov ID
- NCT03417856
- Acronym / sponsor ID
- 2014-15801
- Conditions
- Ichthyosis, Netherton Syndrome
- Keywords
- Ichthyosis, Netherton Syndrome
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Northwestern UniversityUniversity, hospital or other
- Collaborators
- Icahn School of Medicine at Mount Sinai, Galderma R&D
- Study start
- 31 Jan 2018 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 31 Jan 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 1 year to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Cellular infiltrates
Time frame: One year
We will examine your skin and blood samples for various immune cells known to be involved in ichthyosis.
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.
1 secondary outcome
Correlation of biomarkers to quality of life
Time frame: One year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Apr 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ichthyosis and Netherton Syndrome, run by Northwestern University at 4 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 27 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cellular infiltrates (time frame: One year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Apr 2026.