Genetic Skin Disorders

Overview:

Patients with epidermolysis bullosa (EB) require daily care of chronic wounds that are at risk for colonization by various bacterial organisms. A subset of patients is at risk for squamous cell carcinoma (SCC) and certain bacterial-host interactions have been implicated. Given the rarity of EB, multicenter involvement is necessary to generate optimal data-driven wound care recommendations. The EB Clinical Characterization and Outcomes Database (EBCCOD) serves as a repository of information from EB patients across 19 participating centers in the United States and Canada. Using this resource, we are characterizing EB patients’ home skin care routines and to analyze wound culture results from EB patients on a multicenter scale (including mupirocin susceptibilities). A secondary aim is to gather pilot data to better understand the relationship between wound culture results, chronicity of wounds and SCC risk.

This study is a retrospective analysis on data from more than 800 patients pertaining to skin care practices and clinical features.

Status:

Analyzing data.

This project received a 2019 PeDRA Study Support Grant provide statistical support to ensure the most accurate presentation of wound microbes from skin cultures, identifiable risk factors, and microbe trends. This analysis will be done on the complete dataset at the Biostatistics, Epidemiology, and Research Design program at Columbia University Irving Medical Center.

Overview:

This study is using novel techniques to examine genetic mutations related to rare disorders of keratinization. Discoveries made are likely to impact the development of targeted therapies in future.

This study is funded by an R01 grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health.

Status:

IRB approved and collecting data. Seeking patient referrals.

Overview:

This survey seeks to better understand the needs of adults with epidermolysis bullosa (EB). It will be disseminated through a number of channels, including on-line via patient advocacy organization websites.

Status:

Primary outcomes have been determined. The research team is now determining secondary outcomes to pursue with the survey and a data analysis plan before launching.

Overview:

This is a multidisciplinary consensus effort to establish guidelines for the use of both topical and systemic retinoids in the use of ichthyosis and other disorders of cornification. Partial funding for this effort has been provided by FIRST Foundation and Sun Pharmaceuticals.

Status:

A consensus meeting was held at the 2018 PeDRA Annual Conference in Aurora, CO and a manuscript is currently being prepared for publication.

Overview:

This study will allow us to search for trends and relationships between participants’ specific genetic abnormalities and the types and severity of their health problems related to Gorlin Syndrome. We hope our study will provide a better understanding of this condition and will have an impact on the development of many new therapeutic strategies in Gorlin Syndrome. In this light, we plan to share the results of our study with many other clinicians who take care of children and adults with Gorlin Syndrome in the hopes of improving their care and promoting personalized medicine.

Enrollment Information:

This study will enroll individuals that have been formally diagnosed with Gorlin Syndrome and have genetic testing information available related to their diagnosis. The genetic testing information may be from the individuals themselves or from a closely related family member.


Those who choose to participate will be asked to:

1. Complete questionnaires pertaining to demographic information, clinical characteristics/ health problems, disease severity, genetic testing, and therapeutic management related to Gorlin Syndrome.

2. Provide genetic testing information related to their diagnosis of Gorlin Syndrome in the form of a printed report, scan, screenshot, photo, or by answering one of the questions on a questionnaire long form.

We believe that total participation time will take less than 30 minutes. We would highly appreciate your contribution to our study and would like to emphasize that each participant will have a considerable positive impact on our study.

What should you do if you are interested in participating?

Please email our Stanford medical student researcher, Nicolas Betancourt, and he will schedule a phone call to further discuss the study and answer any questions you may have.

Status:

This project is IRB approved and currently enrolling.

Status:

Active study design. More information coming soon.

Overview:

This is an ongoing registry study spanning 10 sites. Data is being collected from children with epidermolysis bullosa (EB) to better understand their demographics, clinical characteristics, diagnoses, clinical events, and outcomes. This project is being run in close partnership with, and with financial support from, the EB Research Partnership and EB Medical Research Foundation.

Status:

Data collection is ongoing. The first manuscript from this project was published by Feinstein et al. in JAMA Dermatology in late 2018. See our publication page for more information.

Overview:

This study is using novel techniques to examine genetic mutations related to mosaic skin disorders. Discoveries made are likely to impact the development of targeted therapies in future.

This study is funded by an R01 grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health.

Status:

IRB approved and collecting data.