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



Status:Recruiting
Conditions:Infectious Disease, Dermatology
Therapuetic Areas:Dermatology / Plastic Surgery, Immunology / Infectious Diseases
Healthy:No
Age Range:Any - 3
Updated:1/11/2018
Start Date:June 2015
End Date:December 2022
Contact:Brittany Criaglow, MD
Email:brittany.craiglow@yale.edu
Phone:203-785-4632

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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.

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.

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
We found this trial at
1
site
New Haven, Connecticut 06520
Principal Investigator: Brittany Craiglow, MD
Phone: 203-785-3852
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New Haven, CT
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