This trial is active, not recruiting.

Conditions darier disease, hailey-hailey disease, hyperkeratosis, epidermolytic, ichthyosis, ichthyosis, lamellar, ichthyosis, x-linked, keratoderma
Sponsor National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Start date September 1994
Trial size 610 participants
Trial identifier NCT00074685, NIAMS-101


The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. This registry is designed to identify people in the United States with the ichthyoses and other related disorders and to collect information about their skin ailment and how it has affected them. The database is available for review by approved research applicants. The registry is confidential and provides investigators a way to share information about studies and trials with potential participants while maintaining participants' privacy.

Although the Registry is closed to new enrollment, it is still maintained in order to provide information related to understanding the diagnosis, pathophysiology, and treatment of ichthyoses. Support for studies continues and inquiries from investigators are welcomed.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model cohort
Time perspective retrospective

Eligibility Criteria

Male or female participants of any age.

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

Additional Information

Official title Research Registry for Inherited Disorders of Keratinization
Principal investigator Philip Fleckman, MD
Description 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.
Trial information was received from ClinicalTrials.gov and was last updated in April 2009.
Information provided to ClinicalTrials.gov by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).