Study of Scaling Disorders and Other Inherited Skin Diseases - Tabular View

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Study of Scaling Disorders and Other Inherited Skin Diseases

This study has been completed.

Study NCT00001292. Last updated on March 4, 2008. Information provided by National Institutes of Health Clinical Center (CC)

This Tabular View shows the required WHO registration data elements as marked by ^†

Descriptive Information Fields
Brief Title ^†	Study of Scaling Disorders and Other Inherited Skin Diseases
Official Title ^†	Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses
Brief Summary	The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause. In some cases, these may include problems affecting organs other than the skin, such as the eyes, teeth and bones. Patients with inherited skin disorders, including Darier's disease (keratosis follicularis), lamellar ichthyosis, epidermolysis bullosa, cystic acne, and others, and their relatives may be eligible for this study. Patients will have a medical history, physical examination with particular emphasis on the skin, and routine blood tests. Additional procedures for patients and unaffected relatives may include: Blood sample collection Dental exam with X-ray of the jaw Eye examination X-rays of the skull, ribs, chest, hands, feet, spine, arms, or legs Bone density scan Photographs of the skin Skin biopsies (removal of a small tissue sample under local anesthetic) Buccal sample (gentle brushing inside the cheek to collect a cell sample) for gene studies Patients who request the results of their gene testing will be provided this information.
Detailed Description	We propose to investigate the genetics of the scaling disorders and other genodermatoses which are believed to behave in a Mendelian manner. Families for study will be ascertained through articles in the Ichthyosis Focus, (the newsletter of the Foundation for Ichthyosis and Related Skin Types), physician referrals, and patient self-referrals. Efforts will be made to further characterize the clinical findings in both affected persons and unaffected gene carriers. Using candidate genes, especially those known to be involved in structural abnormalities of skin, we will attempt to map and isolate major genes contributing to expression of the disease phenotype. Failing this direct approach, a random search of the genome (so-called, "reverse genetics") will be utilized. In addition, normal and diseased skin will be used in cell culture and animal experiments (under a separate protocol) to test new therapeutic modalities.
Study Phase
Study Type ^†	Observational
Study Design ^†
Primary Outcome Measure ^†
Secondary Outcome Measure ^†
Condition ^†	Genetic Skin Disease Keratosis Follicularis Lamellar Ichthyosis
Intervention ^†
MEDLINE PMIDs	7509838, 7773290
Links

Recruitment Information Fields
Recruitment Status ^†	Completed
Enrollment ^†
Start Date ^†	February 1992
Completion Date	April 2001
Eligibility Criteria ^†	No steroid sulfatase deficiency.
Gender	Both
Ages
Accepts Healthy Volunteers	Yes
Contacts ^††
Location Countries ^†	United States

Administrative Information Fields
NCT ID ^†	NCT00001292
Organization ID	920106
Secondary IDs ^††	92-C-0106
Study Sponsor ^†	National Cancer Institute (NCI)
Collaborators ^††
Investigators ^†
Information Provided By	National Institutes of Health Clinical Center (CC)
Verification Date	April 2000
First Received Date ^†	November 3, 1999
Last Updated Date	March 4, 2008

^† Required WHO trial registration data element.
^†† WHO trial registration data element that is required only if it exists.