PeDRA

Pediatric Dermatology Research Alliance

Genetic Skin Disorders

Online, Home-Based Epidermolysis Bullosa Patient Registry

By

Fellow

Jaron Nazaroff
University of California, Irvine

Mentor

Jean Tang, MD, PhD
Stanford University

Overview

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare skin disease caused by changes in patient’s DNA. These changes in DNA cause fragile skin that leads patients to develop painful blisters, eye problems, low blood counts, and scaring of their hands and feet. The severity of this disease can prevent RDEB patients from seeing a dermatologist specializing in RDEB. These specialists sometimes offer genetic testing to find specific changes in DNA. Even though RDEB patients suffer from the same disease, there is significant variability in the symptoms and severity of disease between RDEB patients. It is our goal to look at the specific DNA changes and see if there is an association with how severe their disease is and the symptoms RDEB patients present with. We will do this by offering at home genetic testing and an online survey so that RDEB patient around the country can participate.

Status

This project was funded through a 2022 PeDRA Research Fellowship Grant.

Epidermolysis Bullosa Simplex Disease Activity and Response Tool (EBSdart): Scoring Clinical Severity and Outcomes in Epidermolysis Bullosa Simplex

By

Fellow

Austin Johnson
Stanford Medical School

Mentor

Joyce Teng, MD, PhD
Stanford School of Medicine

Overview

Epidermolysis Bullosa (EB) is a devastating hereditary blistering disease divided into subtypes based on unique mutations and location of affected skin areas. While there have been major breakthroughs for severe dystrophic EB, there is currently no FDA approved treatment for EB simplex (EBS), the most common subtype. Several early-phase EBS clinical trials have failed to obtain approval, which is partially due to a lack of appropriate scoring instruments to measure changes in disease severity. While tools to measure EB severity exist, such measurements are not suitable for EBS, creating challenges in presenting data to the FDA that reflects patients’ clinical outcomes during studies. Our aim is to develop and validate a new instrument for EBS clinical research by modifying existing tools, incorporating clinical experience from recent studies, and create standardized photographic representations of different disease severities before sending test photographs to key EBS opinion leaders for refinement and reliability analysis.

Status

This project was funded through a 2022 PeDRA Research Fellowship Grant.

Deciphering the “ugly duckling” – Natural history and molecular characterization of epidermolysis bullosa nevi

By



Principal Investigators:

Amy Paller, MD
Northwestern University
Feinberg School of Medicine

Antonia Reimer-Taschenbrecker, MD
University of Freiburg, Germany
Northwestern University
Feinberg School of Medicine

Overview:

Epidermolysis bullosa (EB) is a rare genetic skin disease with fragile skin, leading to blisters and wounds after just already minor injury. EB nevi (EBN) are large pigmented spots occurring in up to 14% of EB patients. They grow rapidly and show certain characteristics of melanoma, the most dangerous skin cancer in humans, although they are thought to be benign. Why EBN develop is unclear. It is also unknown whether EBN are, in fact, true nevi and thus carry certain genetic changes in BRAF or NRAS genes with a risk of transformation into cancer. Our goal is to extend the understanding of the course and pathogenesis of EBN by joining patient cohorts of the PeDRA EBCRC group and international reference centers. By analyzing EBN photographs, clinical data, and tissue samples, we aim to better understand how and why EBN develop, as well as their characteristics, allowing more effective longitudinal evaluation.

Status:

This project was funded by a 2020 PeDRA Research Grant.

Characterization of Wound Microbes in Epidermolysis Bullosa

By

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.

Primary disorders of keratinization (DOK): Mutations and novel gene discovery

By

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.

Patient-reported medical needs of adults with EB – Survey Study

By

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.

Guidelines for Retinoid Use in Ichthyosis and other Disorders of Cornification

By

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 has been published.

Gorlin Syndrome (Basal Cell Carcinoma Nevus Syndrome) Clinical Registry and Genotype-Phenotype Correlation Study

By

Principal Investigator:

Joyce Teng, MD, PhD
Stanford University

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.

Status:

This project is complete.