NCT00001292

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:

  1. 1.Blood sample collection
  2. 2.Dental exam with X-ray of the jaw
  3. 3.Eye examination
  4. 4.X-rays of the skull, ribs, chest, hands, feet, spine, arms, or legs
  5. 5.Bone density scan
  6. 6.Photographs of the skin
  7. 7.Skin biopsies (removal of a small tissue sample under local anesthetic)
  8. 8.Buccal sample (gentle brushing inside the cheek to collect a cell sample) for gene studies

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Timeline
Completed

Started Feb 1992

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 1992

Completed
7.8 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
1.4 years until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2001

Completed
1.7 years until next milestone

First Posted

Study publicly available on registry

December 10, 2002

Completed
Last Updated

March 5, 2008

Status Verified

April 1, 2000

First QC Date

November 3, 1999

Last Update Submit

March 4, 2008

Conditions

Genetic Skin DiseaseKeratosis FollicularisLamellar Ichthyosis

Keywords

DNA MarkersFamily StudiesGene MappingIchthyosisKeratinLinkage AnalysisScaling DisordersSkin

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
No steroid sulfatase deficiency.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

National Cancer Institute (NCI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

  • DiGiovanna JJ, Bale SJ. Epidermolytic hyperkeratosis: applied molecular genetics. J Invest Dermatol. 1994 Mar;102(3):390-4. doi: 10.1111/1523-1747.ep12371801.

    PMID: 7509838BACKGROUND

  • 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.

    PMID: 7773290BACKGROUND

MeSH Terms

Conditions

Skin Diseases, GeneticDarier DiseaseIchthyosis, LamellarIchthyosis

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin DiseasesSkin and Connective Tissue DiseasesKeratosisIchthyosiform Erythroderma, CongenitalSkin AbnormalitiesCongenital AbnormalitiesInfant, Newborn, Diseases

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

November 3, 1999

First Posted

December 10, 2002

Study Start

February 1, 1992

Study Completion

April 1, 2001

Last Updated

March 5, 2008

Record last verified: 2000-04

Locations

US(1)