PeDRA

Pediatric Dermatology Research Alliance

Genetic Skin Disorders

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 … [Read more...] about Primary disorders of keratinization (DOK): Mutations and novel gene discovery

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. … [Read more...] about Patient-reported medical needs of adults with EB – Survey Study

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 … [Read more...] about Guidelines for Retinoid Use in Ichthyosis and other Disorders of Cornification

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 … [Read more...] about Gorlin Syndrome (Basal Cell Carcinoma Nevus Syndrome) Clinical Registry and Genotype-Phenotype Correlation Study

Epidermolysis Bullosa Clinical Characterization and Outcomes Database (CCOD)

By

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, … [Read more...] about Epidermolysis Bullosa Clinical Characterization and Outcomes Database (CCOD)

Gene Discovery and Genetic Diagnosis in Inherited and Mosaic Skin Disorders

By

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 … [Read more...] about Gene Discovery and Genetic Diagnosis in Inherited and Mosaic Skin Disorders

Esophageal Strictures in Epidermolysis Bullosa Patients: Incidence, Management Strategies and Patient Outcomes

By

Principal Investigator: Elena Pope, MD University of Toronto Overview: Esophageal strictures are well recognized complications of patients with Epidermolysis Bullosa (EB). To date, there is very little information on the best short and long-term intervention to manage the strictures with … [Read more...] about Esophageal Strictures in Epidermolysis Bullosa Patients: Incidence, Management Strategies and Patient Outcomes