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

Terminated

• Conditions: Ichthyosis
• Interventions: Other: Observation

• Registration Number: NCT02655861
• Lead Sponsor: 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.

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 Timeline

• Study Start: 2015-06
• Study First Submitted: 2015-11-16
• Study First Submitted QC: 2016-01-12
• Study First Posted: 2016-01-14
• Primary Completion: 2019-06-05
• Study Completion: 2019-06-05
• Status Verified: 2020-07
• Last Update Submitted: 2020-07-06
• Last Update Posted: 2020-07-07

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 21

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.

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Exclusion Criteria

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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Ichthyosis	Observation	-

Primary Outcome Measures

Name	Time	Method
Weight	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)	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

Name	Time	Method
Developmental Delays	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.
Weight	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.
Length (Height)	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.
Complications of Congenital Ichthyosis	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.
Electrolyte Disturbance	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.
Systemic Infections	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).

Trial Locations

Locations (1)

Yale School of Medicine; 🇺🇸 New Haven, Connecticut, United States