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National Registry for Ichthyosis and Related Disorders

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ClinicalTrials.gov Identifier: NCT00074685
Recruitment Status : Unknown
Verified April 2009 by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
Recruitment status was:  Active, not recruiting
First Posted : December 19, 2003
Last Update Posted : April 30, 2009
Information provided by:
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

December 18, 2003
December 19, 2003
April 30, 2009
September 1994
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Complete list of historical versions of study NCT00074685 on ClinicalTrials.gov Archive Site
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National Registry for Ichthyosis and Related Disorders
Research Registry for Inherited Disorders of Keratinization

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.

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.

Observational Model: Cohort
Time Perspective: Retrospective
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Retention:   Samples With DNA
Histology, DNA from participating enrollees
Non-Probability Sample
Patients with one of the following diseases: Erythrokeratoderma, Extensive Epidermal Nevi, Darier disease, Hailey-Hailey disease, Ichthyosis, Palmar-Plantar Keratoderma, or Pachyonychia Congenita
  • Darier Disease
  • Hailey-Hailey Disease
  • Hyperkeratosis, Epidermolytic
  • Ichthyosis
  • Ichthyosis, Lamellar
  • Ichthyosis, X-Linked
  • Keratoderma
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Unknown status
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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
Sexes Eligible for Study: All
Child, Adult, Senior
Contact information is only displayed when the study is recruiting subjects
United States
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Dr. Philip Fleckman, University of Washington
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
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Principal Investigator: Philip Fleckman, MD University of Washington
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
April 2009