IchthyosisEarly Phase 1NCT04549792
An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses
A Early Phase 1 study testing Ustekinumab in people with Ichthyosis, run by Northwestern University at 1 site in United States.
Trial summary
The ichthyoses are a group of lifelong genetic disorders that share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. The vast majority are orphan disorders and are associated with extremely poor quality of life related to social ostracism from altered appearance… Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Ichthyosis
- What is being tested?
- Ustekinumab
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 13 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Apr 2021to 26 Jun 2024
- Phase
- Early Phase 1
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Subject has provided informed consent; parental consent for patients under 18 years of age (plus assent for subjects age ≥ 12 and < 18).
- Subjects are at least 6 years of age or older at the time of screening.
- Before screening visit, females must be:
- Postmenopausal, defined as
- ≥ 45 years of age with amenorrhea for at least 18 months, OR
- ≥ 45 years of age with amenorrhea for at least 6 months and a serum FSH level > 40 IU/mL OR
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- Of childbearing potential, in which case she must satisfy at least one of the below:
- Surgically sterile (has had a hysterectomy or bilateral oophorectomy, tubal ligation, or otherwise be incapable of pregnancy), or
- If heterosexually active, practicing a highly effective method of birth control, including hormonal prescription oral contraceptives, contraceptive injections, contraceptive patch, intrauterine device, double-barrier method (e.g., condoms, diaphragm, or cervical cap, with spermicidal foam, cream, film, gel or suppository), or male partner sterilization, consistent with local regulations regarding use of birth control methods for subjects participating in clinical trials, for a period of 16 weeks after the last administration of study agent,
- OR
- Not heterosexually active. Abstinence is allowed as an acceptable form of contraception.
- Note: If a woman participant's childbearing potential changes after start of the study (e.g., a premenarchal woman experiences menarche) or if women of childbearing potential who are not heterosexually active at screening become heterosexually active, they must agree to utilize a highly effective method of birth control, as described above.
- Female participants of childbearing potential (menstrual and not surgically sterile), must have a negative serum beta-human chorionic gonadotropin (ᵦ-hCG) pregnancy test at screening and a negative urine pregnancy test at Week 0 (prior to screening visit) and agree not to donate eggs (ova, oocytes) for the purposes of assisted reproduction during the study and for a period of 16 weeks after the last administration of study agent.
- Male participants who are not surgically sterilized and are heterosexually active with a woman of childbearing potential, must agree to use a barrier method of contraception (e.g., condom with spermicidal foam/gel/film/cream/suppository) and to not donate sperm during the study and for 16 weeks after last receiving study agent. Note that barrier methods must also be used in all male subjects sexually active with pregnant partners for at least 16 weeks after last study agent administration.
- Subjects must have a confirmed clinical diagnosis of ichthyosis/ichthyotic disorder, and either have completed genotype or be willing to be genotyped (genotype results will not be required for entry into the study).
- Subjects must have at least moderate erythema (ISS-erythema score ≥ 2) related to his/her ichthyosis/ichthyotic disorder.
- Subjects must be clinically judged to be immunocompetent based on baseline laboratory testing (chemistry and hematology), medical history and physical examination.
- Subjects will have baseline negative QuantiFERON®-TB gold, Hepatitis B, Hepatitis C, and HIV laboratory testing.
Who cannot join
- Subjects who are unable to provide informed consent or assent (or who do not have consent from a Legally Authorized Representative if < 18 years).
- Subjects with ichthyosis vulgaris or X-linked recessive ichthyosis.
- Subjects who have a known allergy to ustekinumab or its products.
- Female subjects who are pregnant or breastfeeding, or who are considering becoming pregnant.
- Subjects who have prior biologic use targeting IL-12/IL-23 monoclonal antibody.
- Subjects who have used a systemic retinoid or systemic anti-inflammatory agent within 4 weeks prior to baseline.
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- Subjects who have used topical steroid in the previous week, retinoid or keratolytic agent in the previous 24 hours.
- Subjects with active infections or recent history of serious infections, malignancies or history of malignancies, recent immunizations with live vaccines, or any severe, progressive, or uncontrolled renal, hepatic, hematologic, endocrine, pulmonary, cardiac, neurologic, psychiatric, or cerebral disease, or signs or symptoms thereof
- Subjects who are under 6 years of age at the time of screening.
Trial locations and contacts
1 site in 1 country.
United States1 site
Northwestern University/Lurie Children's Hospital
Chicago, Illinois, 60611
About this study
Official title: An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses.
The ichthyoses are a group of lifelong genetic disorders that share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. The vast majority are orphan disorders and are associated with extremely poor quality of life related to social ostracism from altered appearance, associated itchiness and discomfort, and functional limitations from the skin disease. Among the more common "orphan" forms of ichthyosis are autosomal recessive congenital ichthyosis (ARCI; includes lamellar ichthyosis/LI and congenital ichthyosiform erythroderma/CIE), Netherton syndrome (NS) and epidermolytic ichthyosis (EI). However, there are dozens of other syndromic and non-syndromic ichthyotic disorders as well. Therapy is time-consuming for patients or parents and is supportive, focusing on clearance of the scaling. There are no therapies based on our growing understanding of what causes the disease. We have recently found marked elevations in Th17/IL-23 pathway cytokines and chemokines in the skin of individuals with ichthyosis, most similar to the inflammatory pattern of psoriasis. While the significance of the high expression of Th17/IL-23 pathway genes across all forms of ichthyosis studied to date is unknown, the high expression of genes of the Th17/IL-23 pathway in psoriasis is thought to be causative for the disease manifestations. We propose that IL-12/IL-23 -targeting therapeutics will safely suppress the inflammation and possibly the other features of ichthyosis, improving quality of life. As a proof-of-concept study, we propose to treat children (6 years of age and higher) and adults with ichthyotic disorders with ustekinumab in an open-label trial to serially assess clinical response to and safety of ustekinumab for this group of disorders.
- Conditions
- Ichthyosis
- Being tested
- Ustekinumab
- Medical subject headings
- Ichthyosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
UstekinumabDrug
Each subject will receive ustekinumab at Baseline (Day 0) and Months 1, 3, 5, 7, 9, and 11. During the LTE, subjects will receive injections every 8 weeks for one year: Month 13, Month 15, Month 17, Month 19, Month 21, and Month 23. Subjects will come back in for a follow-up visit at Month 25 for an end of study visit (no drug administration).
| Study group | Role | What they receive |
|---|---|---|
| Open Label | Experimental | Not described Receives: Drug: Ustekinumab |
What is being measured
The primary outcome is the main question the study is designed to answer.
Reduction in Total Ichthyosis Severity Score
To evaluate the efficacy of ustekinumab for ichthyosis, as measured by an at least 50% reduction in severity using the Ichthyosis Severity Score (ISS) measure. The ISS measures from 0-32, with 0 being the least clinically severe and 32 being the most clinically severe.
Measured: 7 months after initiation of study drug
Occurence of Bacterial and Fungal Infections
To evaluate the safety of ustekinumab for ichthyosis, based on occurrence of bacterial and fungal infections
Measured: 7 months after initiation of study drug
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Sep 2020
- Study start1 Apr 2021
- Primary completion12 Jan 2024
- Study completion26 Jun 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- 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
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- Northwestern University
- Sponsor type
- University, hospital or other
- Collaborators
- Janssen Scientific Affairs, LLC
- Responsible party
- Principal investigator, Amy Paller, Northwestern University
- Investigators
- Amy Paller, MD, Principal investigator, Northwestern University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04549792
- Sponsor's protocol ID
- 2020-3233
- Status last verified
- Jan 2025
- First submitted
- 9 Sep 2020
- Last updated
- 12 Feb 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses.
- ClinicalTrials.gov ID
- NCT04549792
- Acronym / sponsor ID
- 2020-3233
- Conditions
- Ichthyosis
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Northwestern UniversityUniversity, hospital or other
- Collaborators
- Janssen Scientific Affairs, LLC
- Study start
- 1 Apr 2021 (actual)
- Primary completion
- 12 Jan 2024 (actual)
- Study completion
- 26 Jun 2024 (actual)
- First posted
- 16 Sep 2020 (actual)
- Results
- Posted 12 Feb 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The ichthyoses are a group of lifelong genetic disorders that share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. The vast majority are orphan disorders and are associated with extremely poor quality of life related to social ostracism from altered appearance, associated itchiness and discomfort, and functional limitations from the skin disease. Among the more common "orphan" forms of ichthyosis are autosomal recessive congenital ichthyosis (ARCI; includes lamellar ichthyosis/LI and congenital ichthyosiform erythroderma/CIE), Netherton syndrome (NS) and epidermolytic ichthyosis (EI). However, there are dozens of other syndromic and non-syndromic ichthyotic disorders as well. Therapy is time-consuming for patients or parents and is supportive, focusing on clearance of the scaling. There are no therapies based on our growing understanding of what causes the disease. We have recently found marked elevations in Th17/IL-23 pathway cytokines and chemokines in the skin of individuals with ichthyosis, most similar to the inflammatory pattern of psoriasis. While the significance of the high expression of Th17/IL-23 pathway genes across all forms of ichthyosis studied to date is unknown, the high expression of genes of the Th17/IL-23 pathway in psoriasis is thought to be causative for the disease manifestations. We propose that IL-12/IL-23 -targeting therapeutics will safely suppress the inflammation and possibly the other features of ichthyosis, improving quality of life. As a proof-of-concept study, we propose to treat children (6 years of age and higher) and adults with ichthyotic disorders with ustekinumab in an open-label trial to serially assess clinical response to and safety of ustekinumab for this group of disorders.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open Label | Experimental | Drug: Ustekinumab |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (18 listed)
- Subject has provided informed consent; parental consent for patients under 18 years of age (plus assent for subjects age ≥ 12 and < 18).
- Subjects are at least 6 years of age or older at the time of screening.
- Before screening visit, females must be:
- ≥ 45 years of age with amenorrhea for at least 18 months, OR
- Surgically sterile (has had a hysterectomy or bilateral oophorectomy, tubal ligation, or otherwise be incapable of pregnancy), or
Key exclusion criteria (9 listed)
- Subjects who are unable to provide informed consent or assent (or who do not have consent from a Legally Authorized Representative if < 18 years).
- Subjects with ichthyosis vulgaris or X-linked recessive ichthyosis.
- Subjects who have a known allergy to ustekinumab or its products.
- Female subjects who are pregnant or breastfeeding, or who are considering becoming pregnant.
- Subjects who have prior biologic use targeting IL-12/IL-23 monoclonal antibody.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| UstekinumabEach subject will receive ustekinumab at Baseline (Day 0) and Months 1, 3, 5, 7, 9, and 11. During the LTE, subjects will receive injections every 8 weeks for one year: Month 13, Month 15, Month 17, Month 19, Month 21, and Month 23. Subjects will come back in for a follow-up visit at Month 25 for an end of study visit (no drug administration). | Drug | Open Label |
Primary outcome
Reduction in Total Ichthyosis Severity Score
Time frame: 7 months after initiation of study drug
To evaluate the efficacy of ustekinumab for ichthyosis, as measured by an at least 50% reduction in severity using the Ichthyosis Severity Score (ISS) measure. The ISS measures from 0-32, with 0 being the least clinically severe and 32 being the most clinically severe.
Occurence of Bacterial and Fungal Infections
Time frame: 7 months after initiation of study drug
To evaluate the safety of ustekinumab for ichthyosis, based on occurrence of bacterial and fungal infections
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Feb 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Amy Paller, MD principal investigator
Northwestern University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing Ustekinumab in people with Ichthyosis, run by Northwestern University at 1 site 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 18 inclusion and 9 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: finished, as of the sponsor's last update on 12 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 12 Feb 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Reduction in Total Ichthyosis Severity Score (time frame: 7 months after initiation of study drug). 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 12 Feb 2025.