Clinical trial NCT02655861: A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis
Official title: Prospective Evaluation of Infants and Children With Congenital Ichthyosis
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Ichthyosis
Lead sponsor: Yale University
Sponsor class: OTHER
Collaborators: name: Foundation for Ichthyosis & Related Skin Types (FIRST)
First posted: 2016-01-14
Enrollment: 21
Sex: ALL
Maximum age (years): 3
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

Eligibility 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

Primary outcomes:
measure: Weight
timeFrame: 36 Months
measure: Length (Height)
timeFrame: 36 Months
Secondary outcomes:
measure: Weight
timeFrame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months
measure: Length (Height)
timeFrame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months
measure: Electrolyte Disturbance
timeFrame: Birth (baseline), 1 month, 2 months, 3 months, 12 months, 24 months, 36 months
measure: Systemic Infections
timeFrame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
measure: Complications of Congenital Ichthyosis
timeFrame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
measure: Developmental Delays
timeFrame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Other outcomes:
measure: Ear and Eye Conditions
timeFrame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months
Locations:
city: New Haven
country: United States
facility: Yale School of Medicine
state: Connecticut
Study officials:
affiliation: Yale University
name: Brittany Criaglow, MD
role: PRINCIPAL_INVESTIGATOR
References: