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

Yale University21 enrolled

Overview

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.

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

Conditions

Ichthyosis

Interventions

ObservationOTHER

Eligibility

Sex: ALLMax age: 3 Years

Medical Language ↔ Plain English

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

Locations (1)

Yale School of Medicine

New Haven, Connecticut, United States

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: 36 Months

Secondary Outcomes

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.

Time frame: 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.

Time frame: 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.

Data from ClinicalTrials.gov

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