Blood metabolite profiling in epidermolysis bullosa
Residents: Dr. Jamie Mull, Dr. Leo Shmuylovich, Dr. David Cotter (UCSD)
Faculty Mentor: Dr. Susan Bayliss
Research Support: American Academy of Dermatology
Epidermolysis bullosa (EB) is associated with malnutrition and an increased
risk of squamous cell carcinoma (SCC). Malnutrition and cancer each provoke
dramatic alterations in the circulating metabolome. Nonetheless, the metabolic changes that occur in EB patients remain undefined. Prospectively, we will identify specific alterations in blood amino acids and acylcarnitine profiles in EB patients that will correlate with biopsy proven EB subtype and the presence of SCC. These findings will inform future clinical and basic science studies that will determine i) sensitive and specific metabolite biomarkers for SCC and ii) if targeted metabolic therapies can decrease SCC risk, promote wound healing, and ameliorate malnourishment in EB patients.
Due to the rarity of EB, we will perform a multi-center study in order to enroll
5-12 patients per group. Study groups will include i) EB Simplex, ii) Junctional
EB, ii) Recessive Dystrophic EB, and iv) any EB patient with SCC. All
participants should have biopsy proven EB and will be less than 18 years of age, except for those with SCC, who will be allowed to enroll irrespective of age. Cases and appropriate age-matched controls will be identified and enrolled by the site-specific principal investigator or at the primary institution.
Medical centers with EB patients are encouraged to participate in the study.
Enrolling patients is fast and relatively simple. Patients must fill out an
enrollment survey and sign an informed consent form. Sample collection is
achieved with a standard lancet and Whatman filter paper. A video of the
sample collection process can be found here.
For additional information or questions, please contact Dr. David Cotter at