IchthyosisNCT02655861
A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis
An observational study of Ichthyosis, run by Yale University at 1 site in United States.
Trial summary
This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics. Read more about this study
- Who is it for?
- Ages Up to 3 years
- Conditions the study is for
- Ichthyosis
- What is being tested?
- Observation
- How many people
- 21 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2015to 5 Jun 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Up to 3 years
- All sexes
- No healthy volunteers
- Child
Study population: Newborns who present at or within 2 months of birth with a clinical diagnosis of ichthyosis, except for infants with a family history of ichthyosis vulgaris and infants with X-linked ichthyosis.
Who may be able to join
- One parent must be able to understand and sign an informed consent document.
- Newborns who present at or within 2 months of birth with a clinical diagnosis of ichthyosis.
- Families must consent to providing DNA for genetic analysis
- Families must agree to the intake evaluation followed by 10 follow-up evaluations, which will occur at ages 1, 2, 3, 6, 9, 12, 18, 24, and 36 months.
Who cannot join
- Subjects with non-English speaking parents
- Patients with a family history of ichthyosis vulgaris
- Patients with X-linked ichthyosis
Trial locations and contacts
1 site in 1 country.
United States1 site
Yale School of Medicine
New Haven, Connecticut, 06519
About this study
Official title: Prospective Evaluation of Infants and Children With Congenital Ichthyosis
This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.
Read the detailed description
The investigators hypothesize that early complications and comorbidities in infants with congenital ichthyosis are genotype-dependent, such that clinical standards of care can be tailored to the genetic diagnoses. Definition of clinical groups based upon phenotype may also provide useful predictors of outcome. Information gained from this study will provide the basis for the development of rational standards of care for the future management of children with congenital ichthyosis.
- Conditions
- Ichthyosis
- Being tested
- Observation
- Medical subject headings
- Ichthyosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ObservationOther
| Study group | Role | What they receive |
|---|---|---|
| Ichthyosis | Not described Receives: Other: Observation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Weight
To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Weight of the child will primarily be used to make this determination.
Measured: 36 Months
Length (Height)
To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Length of the child will primarily be used to make this determination.
Measured: 36 Months
Secondary outcomes (6)
Weight
To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. Weight of the child will be used to characterize growth over the course of the 3 year follow up time.
Measured: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months
Length (Height)
To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. Length of the child will be used to characterize growth over the course of the 3 year follow up time.
Measured: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months
Electrolyte Disturbance
Measurements of electrolytes, including calcium, phosphate, magnesium, BUN and creatinine values will be used to evaluate the incidence, timing, and severity of electrolyte disturbances and the management of these disturbances in the neonatal period in relation to phenotypic group and to genotype. This outcome will be captured as a 'yes/no' for any or all of the above.
Measured: Birth (baseline), 1 month, 2 months, 3 months, 12 months, 24 months, 36 months
Systemic Infections
The incidence, severity timing, and causative organisms of systemic infections during neonatal hospital stays will be reviewed in relation to management, including skin care practices and nursing procedures (e.g., open bed vs. humidified isolette).
Measured: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Complications of Congenital Ichthyosis
Clinical severity will be rated using a standardized instrument. The evolution of skin phenotype will be documented via serial standardized photography. Transepidermal Water Loss (TEWL) will be measured in some sites.
Measured: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Developmental Delays
To determine the incidence and severity of development delays in relation to genotype, a development history will be obtained at each follow-up evaluation, including information regarding relevant interventions such as physical or occupational therapy. Physical examination at each visit will assess range of motion of digital and major limb joints. This outcome will be captured as a 'yes/no' for any or all of the above.
Measured: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2016 (estimated)
- Study startJun 2015
- Primary completion5 Jun 2019
- Study completion5 Jun 2019
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 Yale 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 only
- Time perspective
- Prospective
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- Yale University
- Sponsor type
- University, hospital or other
- Collaborators
- Foundation for Ichthyosis & Related Skin Types (FIRST)
- Responsible party
- Sponsor
- Investigators
- Brittany Criaglow, MD, Principal investigator, Yale University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02655861
- Sponsor's protocol ID
- 1504015620
- Status last verified
- Jul 2020
- First submitted
- 16 Nov 2015
- Last updated
- 7 Jul 2020
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Jul 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Evaluation of Infants and Children With Congenital Ichthyosis
- ClinicalTrials.gov ID
- NCT02655861
- Acronym / sponsor ID
- 1504015620
- Conditions
- Ichthyosis
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 21 participants (actual)
- Lead sponsor
- Yale UniversityUniversity, hospital or other
- Collaborators
- Foundation for Ichthyosis & Related Skin Types (FIRST)
- Study start
- Jun 2015
- Primary completion
- 5 Jun 2019 (actual)
- Study completion
- 5 Jun 2019 (actual)
- First posted
- 14 Jan 2016 (estimated)
- 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.
This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.
Detailed description
The investigators hypothesize that early complications and comorbidities in infants with congenital ichthyosis are genotype-dependent, such that clinical standards of care can be tailored to the genetic diagnoses. Definition of clinical groups based upon phenotype may also provide useful predictors of outcome. Information gained from this study will provide the basis for the development of rational standards of care for the future management of children with congenital ichthyosis.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Ichthyosis | – | Other: Observation |
Who may qualify
- Ages
- Up to 3 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Newborns who present at or within 2 months of birth with a clinical diagnosis of ichthyosis, except for infants with a family history of ichthyosis vulgaris and infants with X-linked ichthyosis.
Key inclusion criteria (4 listed)
- One parent must be able to understand and sign an informed consent document.
- Newborns who present at or within 2 months of birth with a clinical diagnosis of ichthyosis.
- Families must consent to providing DNA for genetic analysis
- Families must agree to the intake evaluation followed by 10 follow-up evaluations, which will occur at ages 1, 2, 3, 6, 9, 12, 18, 24, and 36 months.
Key exclusion criteria (3 listed)
- Subjects with non-English speaking parents
- Patients with a family history of ichthyosis vulgaris
- Patients with X-linked ichthyosis
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 |
|---|---|---|
| Observation | Other | Ichthyosis |
Primary outcome
Weight
Time frame: 36 Months
To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Weight of the child will primarily be used to make this determination.
Length (Height)
Time frame: 36 Months
To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Length of the child will primarily be used to make this determination.
6 secondary outcomes
Weight
Time frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months
Length (Height)
Time frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months
Electrolyte Disturbance
Time frame: Birth (baseline), 1 month, 2 months, 3 months, 12 months, 24 months, 36 months
Systemic Infections
Time frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Complications of Congenital Ichthyosis
Time frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Developmental Delays
Time frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Jul 2020.
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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.
Brittany Criaglow, MD principal investigator
Yale University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ichthyosis, run by Yale 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 4 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: stopped early, as of the sponsor's last update on 7 Jul 2020. 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.
Are results available for this study?
The study was stopped early. Results are not available in the source record.
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?
Weight (time frame: 36 Months). 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 7 Jul 2020; AzTrials last refreshed its copy on 7 Nov 2026.