Darier DiseaseNCT00074685
National Registry for Ichthyosis and Related Disorders
An observational study of Darier Disease and Hailey-Hailey Disease, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
Trial summary
The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Darier Disease, Hailey-Hailey Disease, Hyperkeratosis, Epidermolytic
- How many people
- 610 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 1994to Jan 2004
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with one of the following diseases: Erythrokeratoderma, Extensive Epidermal Nevi, Darier disease, Hailey-Hailey disease, Ichthyosis, Palmar-Plantar Keratoderma, or Pachyonychia Congenita
Who may be able to join
- Diagnosis of one of the ichthyoses, erythrokeratodermas, Darier disease, Hailey-Hailey disease, palmar-plantar keratodermas, pachyonychia congenita, extensive epidermal nevi, or related disorder
Who cannot join
- Ichthyosis Vulgaris
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Research Registry for Inherited Disorders of Keratinization
The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. This registry is designed to identify people in the United States with the ichthyoses and other related disorders and to collect information about their skin ailment and how it has affected them. The database is available for review by approved research applicants. The registry is confidential and provides investigators a way to share information about studies and trials with potential participants while maintaining participants' privacy.
Although the Registry is closed to new enrollment, it is still maintained in order to provide information related to understanding the diagnosis, pathophysiology, and treatment of ichthyoses. Support for studies continues and inquiries from investigators are welcomed.
Read the detailed description
The purpose of this registry is to support studies aimed at determining the cause of the ichthyoses and treating them more effectively. The Registry offers blinded information about well-characterized groups of individuals with specific diagnoses for study by skin biologists, pharmacologists, and others. The Registry also provides information about research projects to those that have enrolled in the Registry and expressed an interest in participating in studies.
Participants enrolled in the Registry by contacting the registry officials. All participants participated in a phone interview with the study research nurse. Participants were asked about diagnostic testing, treatments, birth history, medical history, degree and type of involvement, current physical condition, and other family members with skin disorders. A quality of life index was embedded in the interview. Participants also indicated whether they would like to be contacted about participating in clinical research. This information was complemented by an enrollment form from the enrollee's caregiver.
Diagnosis was confirmed by specific criteria based on clinical involvement, review of histology, and where appropriate, serum cholesterol sulfate determination or DNA analysis.
- Conditions
- Darier Disease, Hailey-Hailey Disease, Hyperkeratosis, Epidermolytic, Ichthyosis, Ichthyosis, Lamellar, Ichthyosis, X-Linked
- Keywords
- Congenital, Epidermal nevus, Erythroderma, Darier, Hailey-Hailey, Harlequin, Ichthyosiform, Ichthyosiform erythroderma, Keratoderma, Keratosis, Pachyonychia, Sjogren-Larsson
- Medical subject headings
- Darier Disease, Pemphigus, Benign Familial, Hyperkeratosis, Epidermolytic, Ichthyosis, Ichthyosis, Lamellar, Ichthyosis, X-Linked, Epidermal Nevus, Dermatitis, Exfoliative
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Dec 2003 (estimated)
- Study startSep 1994
- Primary completionJan 2004
- Study completionJan 2004
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (15)Papers the sponsor has linked to this study.
- Other trials for Darier DiseaseStudies of the same condition, open and under way.
- 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
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 610 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Philip Fleckman, MD, Principal investigator, University of Washington
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00074685
- Sponsor's protocol ID
- NIAMS-101
- Status last verified
- Apr 2009
- First submitted
- 18 Dec 2003
- Last updated
- 28 Sep 2022
- Results posted
- No
- Data monitoring committee
- No
Publications
Fleckman P. Management of the ichthyoses. Skin Therapy Lett. 2003 Sep;8(6):3-7.
PubMed 14610614Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. doi: 10.1002/art.1780400903. No abstract available.
PubMed 9324008Fleckman P: The ichthyosis registry - a resource ready for use. J Invest Dermatol 123(1):x, 2004
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840.
PubMed 9843209Zettersten E, Man MQ, Sato J, Denda M, Farrell A, Ghadially R, Williams ML, Feingold KR, Elias PM. Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J Invest Dermatol. 1998 Nov;111(5):784-90. doi: 10.1046/j.1523-1747.1998.00386.x.
PubMed 9804339Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001 Aug;117(2):179-87. doi: 10.1046/j.1523-1747.2001.01389.x.
PubMed 11511292Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May;70(5):1341-8. doi: 10.1086/339986. Epub 2002 Mar 22.
PubMed 11912510Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x.
PubMed 12648223Fowler AJ, Moskowitz DG, Wong A, Cohen SP, Williams ML, Heyman MB. Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure. J Pediatr Gastroenterol Nutr. 2004 Feb;38(2):164-9. doi: 10.1097/00005176-200402000-00012.
PubMed 14734878Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM, Williams ML. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul;145(1):82-92. doi: 10.1016/j.jpeds.2004.03.052.
PubMed 15238912Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x.
PubMed 16250204Richard G, Ratajcaz P, Amin S, Ilyas H. Netherton Syndrome: Novel and Recurrent Mutations in SPINK5 and implications for screening and diagnosis. J Invest Dermatol 122, 2004.
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol. 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031.
PubMed 18571597Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.
PubMed 18948357Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952.
PubMed 19241467
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Research Registry for Inherited Disorders of Keratinization
- ClinicalTrials.gov ID
- NCT00074685
- Acronym / sponsor ID
- NIAMS-101
- Conditions
- Darier Disease, Hailey-Hailey Disease, Hyperkeratosis, Epidermolytic, Ichthyosis, Ichthyosis, Lamellar, Ichthyosis, X-Linked
- Keywords
- Congenital, Epidermal nevus, Erythroderma, Darier, Hailey-Hailey, Harlequin, Ichthyosiform, Ichthyosiform erythroderma
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 610 participants (actual)
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)US National Institutes of Health
- Study start
- Sep 1994
- Primary completion
- Jan 2004 (actual)
- Study completion
- Jan 2004 (actual)
- First posted
- 19 Dec 2003 (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 ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. This registry is designed to identify people in the United States with the ichthyoses and other related disorders and to collect information about their skin ailment and how it has affected them. The database is available for review by approved research applicants. The registry is confidential and provides investigators a way to share information about studies and trials with potential participants while maintaining participants' privacy.
Although the Registry is closed to new enrollment, it is still maintained in order to provide information related to understanding the diagnosis, pathophysiology, and treatment of ichthyoses. Support for studies continues and inquiries from investigators are welcomed.
Detailed description
The purpose of this registry is to support studies aimed at determining the cause of the ichthyoses and treating them more effectively. The Registry offers blinded information about well-characterized groups of individuals with specific diagnoses for study by skin biologists, pharmacologists, and others. The Registry also provides information about research projects to those that have enrolled in the Registry and expressed an interest in participating in studies.
Participants enrolled in the Registry by contacting the registry officials. All participants participated in a phone interview with the study research nurse. Participants were asked about diagnostic testing, treatments, birth history, medical history, degree and type of involvement, current physical condition, and other family members with skin disorders. A quality of life index was embedded in the interview. Participants also indicated whether they would like to be contacted about participating in clinical research. This information was complemented by an enrollment form from the enrollee's caregiver.
Diagnosis was confirmed by specific criteria based on clinical involvement, review of histology, and where appropriate, serum cholesterol sulfate determination or DNA analysis.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with one of the following diseases: Erythrokeratoderma, Extensive Epidermal Nevi, Darier disease, Hailey-Hailey disease, Ichthyosis, Palmar-Plantar Keratoderma, or Pachyonychia Congenita
Key inclusion criteria (1 listed)
- Diagnosis of one of the ichthyoses, erythrokeratodermas, Darier disease, Hailey-Hailey disease, palmar-plantar keratodermas, pachyonychia congenita, extensive epidermal nevi, or related disorder
Key exclusion criteria (1 listed)
- Ichthyosis Vulgaris
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 28 Sep 2022.
- Background: PubMed 14610614Fleckman P. Management of the ichthyoses. Skin Therapy Lett. 2003 Sep;8(6):3-7.
- Background: PubMed 9324008Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. doi: 10.1002/art.1780400903. No abstract available.
- BackgroundFleckman P: The ichthyosis registry - a resource ready for use. J Invest Dermatol 123(1):x, 2004
- Results publication: PubMed 9843209Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840.
- Results publication: PubMed 9804339Zettersten E, Man MQ, Sato J, Denda M, Farrell A, Ghadially R, Williams ML, Feingold KR, Elias PM. Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J Invest Dermatol. 1998 Nov;111(5):784-90. doi: 10.1046/j.1523-1747.1998.00386.x.
- Results publication: PubMed 11511292Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001 Aug;117(2):179-87. doi: 10.1046/j.1523-1747.2001.01389.x.
- Results publication: PubMed 11912510Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May;70(5):1341-8. doi: 10.1086/339986. Epub 2002 Mar 22.
- Results publication: PubMed 12648223Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x.
- Results publication: PubMed 14734878Fowler AJ, Moskowitz DG, Wong A, Cohen SP, Williams ML, Heyman MB. Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure. J Pediatr Gastroenterol Nutr. 2004 Feb;38(2):164-9. doi: 10.1097/00005176-200402000-00012.
- Results publication: PubMed 15238912Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM, Williams ML. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul;145(1):82-92. doi: 10.1016/j.jpeds.2004.03.052.
- Results publication: PubMed 16250204Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x.
- Results publicationRichard G, Ratajcaz P, Amin S, Ilyas H. Netherton Syndrome: Novel and Recurrent Mutations in SPINK5 and implications for screening and diagnosis. J Invest Dermatol 122, 2004.
- FIRST - Foundation for Ichthyosis and Related Skin TypesLink provided by the sponsor.
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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.
Philip Fleckman, MD principal investigator
University of Washington
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 Darier Disease and Hailey-Hailey Disease, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Sep 2022. 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 NCT00074685, which also lists 15 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 28 Sep 2022.