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National Registry for Ichthyosis and Related Disorders

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ClinicalTrials.gov Identifier: NCT00074685
Recruitment Status : Completed
First Posted : December 19, 2003
Last Update Posted : September 28, 2022
Information provided by (Responsible Party):
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Brief Summary:

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.

Condition or disease
Darier Disease Hailey-Hailey Disease Hyperkeratosis, Epidermolytic Ichthyosis Ichthyosis, Lamellar Ichthyosis, X-Linked Keratoderma

Detailed 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.

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Study Type : Observational
Actual Enrollment : 610 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Research Registry for Inherited Disorders of Keratinization
Study Start Date : September 1994
Actual Primary Completion Date : January 2004
Actual Study Completion Date : January 2004

Biospecimen Retention:   Samples With DNA
Histology, DNA from participating enrollees

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with one of the following diseases: Erythrokeratoderma, Extensive Epidermal Nevi, Darier disease, Hailey-Hailey disease, Ichthyosis, Palmar-Plantar Keratoderma, or Pachyonychia Congenita

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00074685

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United States, Washington
University of Washington
Seattle, Washington, United States, 98195
Sponsors and Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
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Principal Investigator: Philip Fleckman, MD University of Washington
Additional Information:
Publications of Results:
Richard G, Ratajcaz P, Amin S, Ilyas H. Netherton Syndrome: Novel and Recurrent Mutations in SPINK5 and implications for screening and diagnosis. J Invest Dermatol 122, 2004.

Other Publications:
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Responsible Party: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
ClinicalTrials.gov Identifier: NCT00074685    
Other Study ID Numbers: NIAMS-101
First Posted: December 19, 2003    Key Record Dates
Last Update Posted: September 28, 2022
Last Verified: April 2009
Keywords provided by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS):
Epidermal nevus
Ichthyosiform erythroderma
Additional relevant MeSH terms:
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Ichthyosis, Lamellar
Pemphigus, Benign Familial
Darier Disease
Hyperkeratosis, Epidermolytic
Ichthyosis, X-Linked
Skin Abnormalities
Congenital Abnormalities
Infant, Newborn, Diseases
Skin Diseases
Ichthyosiform Erythroderma, Congenital
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases, Vesiculobullous
Genetic Diseases, X-Linked
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases