Genetic Skin DiseaseNCT00001292
Study of Scaling Disorders and Other Inherited Skin Diseases
An observational study of Genetic Skin Disease and Keratosis Follicularis, run by National Cancer Institute (NCI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Genetic Skin Disease, Keratosis Follicularis, Lamellar Ichthyosis
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- Feb 1992to Apr 2001
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
No steroid sulfatase deficiency.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Cancer Institute (NCI)
Bethesda, Maryland, 20892
About this study
Official title: Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses
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:
Read more
- 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.
Read the 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.
- Keywords
- DNA Markers, Family Studies, Gene Mapping, Ichthyosis, Keratin, Linkage Analysis, Scaling Disorders, Skin
- Medical subject headings
- Skin Diseases, Genetic, Darier Disease, Ichthyosis, Lamellar, Ichthyosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2002 (estimated)
- Study startFeb 1992
- Study completionApr 2001
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Genetic Skin DiseaseStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001292
- Sponsor's protocol ID
- 920106
- Other IDs
- 92-C-0106
- Status last verified
- Apr 2000
- First submitted
- 3 Nov 1999
- Last updated
- 5 Mar 2008
- Results posted
- No
Publications
DiGiovanna JJ, Bale SJ. Epidermolytic hyperkeratosis: applied molecular genetics. J Invest Dermatol. 1994 Mar;102(3):390-4. doi: 10.1111/1523-1747.ep12371801.
PubMed 7509838Russell 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.
PubMed 7773290
Study at a glance
From the registry record, last updated by the sponsor on 5 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses
- ClinicalTrials.gov ID
- NCT00001292
- Acronym / sponsor ID
- 920106
- Keywords
- DNA Markers, Family Studies, Gene Mapping, Ichthyosis, Keratin, Linkage Analysis, Scaling Disorders, Skin
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- Feb 1992
- Study completion
- Apr 2001
- First posted
- 10 Dec 2002 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Mar 2008.
- Background: PubMed 7509838DiGiovanna JJ, Bale SJ. Epidermolytic hyperkeratosis: applied molecular genetics. J Invest Dermatol. 1994 Mar;102(3):390-4. doi: 10.1111/1523-1747.ep12371801.
- Background: PubMed 7773290Russell 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Skin Disease and Keratosis Follicularis, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Mar 2008. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001292, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Mar 2008.