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A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis

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ClinicalTrials.gov Identifier: NCT02655861
Recruitment Status : Recruiting
First Posted : January 14, 2016
Last Update Posted : January 9, 2018
Sponsor:
Collaborator:
Foundation for Ichthyosis & Related Skin Types (FIRST)
Information provided by (Responsible Party):
Yale University

Brief 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.

Condition or disease Intervention/treatment
Ichthyosis Other: Observation

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.

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Prospective Evaluation of Infants and Children With Congenital Ichthyosis
Study Start Date : June 2015
Estimated Primary Completion Date : December 2022
Estimated Study Completion Date : December 2022


Group/Cohort Intervention/treatment
Ichthyosis Other: Observation



Primary Outcome Measures :
  1. 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.

  2. 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.


Secondary Outcome Measures :
  1. Weight [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months ]
    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.

  2. Length (Height) [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months ]
    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.

  3. Electrolyte Disturbance [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 12 months, 24 months, 36 months ]
    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.

  4. 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 ]
    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).

  5. 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 ]
    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.

  6. 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 ]
    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.


Other Outcome Measures:
  1. Ear and Eye Conditions [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months ]
    To determine the incidence and severity of ear and eye problems in early childhood in relation to genotype, caregivers will be queried regarding buildup of ear debris and palpebral closure during sleep. Physical exams will assess ear canal patency, lid closure, and signs of conjunctival irritation. If participants are evaluated and/or treated by ophthalmology and otolaryngology, these records will be obtained. This outcome will be captured as a 'yes/no' for any or all of the above.


Biospecimen Retention:   Samples With DNA
Saliva or blood


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 3 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
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.
Criteria

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • Subjects with non-English speaking parents
  • Patients with a family history of ichthyosis vulgaris
  • Patients with X-linked ichthyosis

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): NCT02655861


Contacts
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Contact: Brittany Criaglow, MD 203-785-4632 brittany.craiglow@yale.edu

Locations
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United States, Connecticut
Yale School of Medicine Recruiting
New Haven, Connecticut, United States, 06519
Contact: Kristin DeFrancesco, BS    203-785-3852    kristin.defrancesco@yale.edu   
Principal Investigator: Brittany Craiglow, MD         
Sponsors and Collaborators
Yale University
Foundation for Ichthyosis & Related Skin Types (FIRST)
Investigators
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Principal Investigator: Brittany Criaglow, MD Yale University

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Responsible Party: Yale University
ClinicalTrials.gov Identifier: NCT02655861    
Other Study ID Numbers: 1504015620
First Posted: January 14, 2016    Key Record Dates
Last Update Posted: January 9, 2018
Last Verified: January 2018
Additional relevant MeSH terms:
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Ichthyosis
Ichthyosis, Lamellar
Ichthyosiform Erythroderma, Congenital
Skin Abnormalities
Congenital Abnormalities
Infant, Newborn, Diseases
Keratosis
Skin Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn