Research Registry for Inherited Disorders of Keratinization
Data Collection
Collected from past medical records and data - RetrospectiveCongenital Abnormalities+16
+ Ichthyosis
+ Infant, Newborn, Diseases
Cohort
Tracking disease incidence in order to identify risk factors and understand disease progression over time.Summary
Study start date: September 1, 1994
Actual date on which the first participant was enrolled.The purpose of this registry is to support studies aimed at determining the cause of the ichthyoses and treating them more effectively. The Registry offers blinded information about well-characterized groups of individuals with specific diagnoses for study by skin biologists, pharmacologists, and others. The Registry also provides information about research projects to those that have enrolled in the Registry and expressed an interest in participating in studies. Participants enrolled in the Registry by contacting the registry officials. All participants participated in a phone interview with the study research nurse. Participants were asked about diagnostic testing, treatments, birth history, medical history, degree and type of involvement, current physical condition, and other family members with skin disorders. A quality of life index was embedded in the interview. Participants also indicated whether they would like to be contacted about participating in clinical research. This information was complemented by an enrollment form from the enrollee's caregiver. Diagnosis was confirmed by specific criteria based on clinical involvement, review of histology, and where appropriate, serum cholesterol sulfate determination or DNA analysis.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.610 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Cohort
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
Note: Accrual into this study has been discontinued as of 03/31/04. Inclusion Criteria: * Diagnosis of one of the ichthyoses, erythrokeratodermas, Darier disease, Hailey-Hailey disease, palmar-plantar keratodermas, pachyonychia congenita, extensive epidermal nevi, or related disorder Exclusion Criteria: * Ichthyosis Vulgaris
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location