- Congenital bullous ichthyosiform erythroderma
- Bullous congenital ichthyosiform erythroderma
- Bullous ichthyosiform erythroderma congenita
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The Office of Rare Diseases Research co-sponsored a conference titled Frontiers in Ichthyosis Research from June 23-25, 2010 at the Regal Sun Resort in Lake Buena Vista, Orlando, Florida. The goals of this conference were to (1) provide an opportunity for investigators to become inspired by ichthyosis patients, thereby helping them focus on facilitating diagnosis, improving understanding of long- and short-term medical and social issues, and developing new therapeutic approaches to treatment and (2) identify new ways in which the investigators, patients, and patient support groups can achieve ongoing synergistic interactions. Click on the link above to learn more.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. There is a study titled “Regulation and Function of Keratins in the Epidermis” one aim of this trials is to use a mouse model of epidermolytic hyperkeratosis to test new gene therapy strategies. Although this project may not conduct studies on humans, you may want to contact the investigators to learn more.
To search RePORT for studies, click on the link below and enter the disease name in the “Terms Search” box. Then click “Submit Query”.
The Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T) is an advocacy organization that funds and supports investigation into the causes, treatments, and potential cures for ichthyosis. Click on the link above to view a list of research programs supported by F.I.R.S.T (research links are listed on the right hand column of the page).
The National Registry for Ichthyosis and Related Disorders at the University of Washington was created with the support of the National Institutes of Health (NIH) to encourage research into the diagnosis and treatment of ichthyoses and related disorders. Although the registry is no longer recruiting participants, you can learn more about the study by clicking on the link above.
Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. No studies involving bullous erythroderma ichthyosiformis congenita of Brocq are listed at this time, but check this site often for updates. To search for a study, use "bullous erythroderma ichthyosiformis congenita of Brocq" or "epidermolytic hyperkeratosis" as your search term.
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials.
Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.
- The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".