Ignite Creation Date:
2024-05-05 @ 10:23 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001292
Status:
COMPLETED
Last Update Posted:
2008-03-05
First Post:
1999-11-03
Brief Title:
Study of Scaling Disorders and Other Inherited Skin Diseases
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses
Status:
COMPLETED
Status Verified Date:
2000-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 Dariers 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 Blood sample collection
2 Dental exam with X-ray of the jaw
3 Eye examination
4 X-rays of the skull ribs chest hands feet spine arms or legs
5 Bone density scan
6 Photographs of the skin
7 Skin biopsies removal of a small tissue sample under local anesthetic
8 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
Patients with inherited skin disorders including Dariers 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 Blood sample collection
2 Dental exam with X-ray of the jaw
3 Eye examination
4 X-rays of the skull ribs chest hands feet spine arms or legs
5 Bone density scan
6 Photographs of the skin
7 Skin biopsies removal of a small tissue sample under local anesthetic
8 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 92-C-0106 | None | None | None |