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Additional file 2: Table S1. Clinical trials published for the treatment of EB using small molecules. This table is a summary of published small molecules in the therapy of Epidermolysis bullosa. Publications are ordered by EB subtype and type of trial (RCT, CT, case study), most recent publications on top of each section. The benefit for the patient was clustered into the groups reduction of blister numbers, itch reduction, pain reduction, improvement of wound healing, prevention and treatment of SCCs, and others. Others include QoL (n = 1), relieve anal sphincter spasm and fissuring (n = 1), lower stricture indices in esophageal stenosis (n = 1), plasma phospholipid and fatty acid profiles (n = 1), and reduction of inflammation (n = 1). na: not applicable. * Primary or clinically relevant endpoints are given for RCT trials. # Indicates drugs that are currently under clinical investigation in recruiting or running registered trials (Table S2)

Additional file 1. Supplementary information and data: Additional information on cell lines, bioinformatic data processing, CRISPR/Cas9-mediated knock-out of DIAPH2, flow cytometry for CD44 and CD24 expression, miRNA library preparation and next generation sequencing, Luciferase-reporter assay. Supplementary data summarized in tables: cell lines, antibodies, primers sequences, top up- and down-regulated miRNAs in microarray analysis: RDEB-cSCC versus RDEB-KCs, and HC-cSCC versus HC-KC, miR-10b target selection and validation. Supplementary experimental data in figures: miR-10b target selection and validation; controls for miRNA probe specificity in in situ hybridization on FFPE tissue sections; miRNA probe specificity for in situ hybridization on cultured cells and single cell resolution image-based data analysis workflow; miRNA probe specificity for in situ hybridization on cultured cells; generation of experimental cell lines; characterization of experimental cell lines; validation of miR-10b targets HOXD10 and DIAPH2; survival analysis and target evaluation.

Additional file 3: Table S2. Currently registered clinical trials for EB investigation small molecule-based drugs. The table combines trials registered in the following databases: www.clinicaltrials.gov [15] and www.clinicaltrialsregister.eu [16]. Trials are ordered according to current status, subtype and clinical trial phase. Status definitions were adopted from www.clinicaltrials.gov . Recruiting: The study is currently recruiting participants. Active, not recruiting: The study is ongoing, and participants are receiving an intervention or being examined, but potential participants are not currently being recruited. Terminated: The study has stopped early and will not start again. Participants are no longer being examined or treated. Completed: The study has ended normally, and participants are no longer being examined or treated. Unknown: A study whose last known status was recruiting; not yet recruiting; or active, not recruiting but that has passed its completion date, and the status has not been last verified within the past 2 years. Completed registered trials that have subsequently been published are only listed in Table S1

Additional file 1. PRISMA 2009 Flow Diagram.