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

Ichthyosis Clinical Trial

Official title:

Prospective Evaluation of Infants and Children With Congenital Ichthyosis

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02655861
• Other study ID #: 1504015620
• Status: Terminated
• Start date: June 2015
• Est. completion date: June 5, 2019

Study information

• Verified date: July 2020
• Source: Yale University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 21
• Est. completion date: June 5, 2019
• Est. primary completion date: June 5, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 3 Years

Eligibility

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

Related Conditions & MeSH terms

• Ichthyosis
• Ichthyosis, Lamellar

Intervention

Other:
• Observation

Locations

Country	Name	City	State
United States	Yale School of Medicine	New Haven	Connecticut

Sponsors (2)

Lead Sponsor	Collaborator
Yale University	Foundation for Ichthyosis & Related Skin Types (FIRST)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	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
Primary	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
Primary	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	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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