Genetic Skin Disorders

Principal Investigator:

Kimberly Morel, MD – Columbia University

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.

Principal Investigator:

Keith Choate, MD, PhD – Yale University

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.

Principal Investigator:

Christina Boull, MD – University of Minnesota

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.

Principal Investigator:

Andrea Zaenglein, MD – Penn State

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.

Principal Investigator:

Joyce Teng, MD, PhD – Stanford University

Status:

IRB Approved. More information coming soon.

Principal Investigator:

Anna Bruckner, MD – University of Colorado

Status:

Active study design. More information coming soon.

Principal Investigator:

Anna Bruckner, MD – University of Colorado

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.

Principal Investigator:

Keith Choate, MD, PhD – Yale University

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.