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

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.

Study Overview

• Status: Terminated
• Conditions: Ichthyosis
• Intervention / Treatment: 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.

• Study Type: Observational
• Enrollment (Actual): 21

Contacts and Locations

Study Locations

• United States
  • Connecticut
    • New Haven, Connecticut, United States, 06519
      • Yale School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 1 year (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Ichthyosis	Other: Observation

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	36 Months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	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).	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.	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.	Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ear and Eye Conditions	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.	Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months

Collaborators and Investigators

• Sponsor: Yale University
• Collaborators: Foundation for Ichthyosis & Related Skin Types (FIRST)
• Investigators: Principal Investigator: Brittany Criaglow, MD, Yale University

Study record dates

Study Major Dates

• Study Start: June 1, 2015
• Primary Completion (Actual): June 5, 2019
• Study Completion (Actual): June 5, 2019

Study Registration Dates

• First Submitted: November 16, 2015
• First Submitted That Met QC Criteria: January 12, 2016
• First Posted (Estimate): January 14, 2016

Study Record Updates

• Last Update Posted (Actual): July 7, 2020
• Last Update Submitted That Met QC Criteria: July 6, 2020
• Last Verified: July 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Congenital Abnormalities; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Abnormalities; Keratosis; Ichthyosis; Ichthyosis, Lamellar; Ichthyosiform Erythroderma, Congenital
• Other Study ID Numbers: 1504015620