Study of Scaling Disorders and Other Inherited Skin Diseases
Primary Purpose
Genetic Skin Disease, Keratosis Follicularis, Lamellar Ichthyosis
Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for Genetic Skin Disease focused on measuring DNA Markers, Family Studies, Gene Mapping, Ichthyosis, Keratin, Linkage Analysis, Scaling Disorders, Skin
Eligibility Criteria
No steroid sulfatase deficiency.
Sites / Locations
- National Cancer Institute (NCI)
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00001292
First Posted
November 3, 1999
Last Updated
March 4, 2008
Sponsor
National Cancer Institute (NCI)
1. Study Identification
Unique Protocol Identification Number
NCT00001292
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
Study Type
Observational
2. Study Status
Record Verification Date
April 2000
Overall Recruitment Status
Completed
Study Start Date
February 1992 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
April 2001 (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
National Cancer Institute (NCI)
4. Oversight
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Genetic Skin Disease, Keratosis Follicularis, Lamellar Ichthyosis
Keywords
DNA Markers, Family Studies, Gene Mapping, Ichthyosis, Keratin, Linkage Analysis, Scaling Disorders, Skin
7. Study Design
10. Eligibility
Sex
All
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
No steroid sulfatase deficiency.
Facility Information:
Facility Name
National Cancer Institute (NCI)
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
7509838
Citation
DiGiovanna JJ, Bale SJ. Epidermolytic hyperkeratosis: applied molecular genetics. J Invest Dermatol. 1994 Mar;102(3):390-4. doi: 10.1111/1523-1747.ep12371801.
Results Reference
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PubMed Identifier
7773290
Citation
Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet. 1995 Mar;9(3):279-83. doi: 10.1038/ng0395-279.
Results Reference
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Study of Scaling Disorders and Other Inherited Skin Diseases
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