Methodology for Generating Datasets with Characteristic Diagnostic Parameters of Rare Diseases Using the Example of Pompe Disease, Gaucher Disease and Smith-Lemli-Opitz Syndrome

BackgroundFinding a diagnosis for rare diseases is a challenge for patients and those treating them. Establishing a uniform methodology for specifying the symptoms of a patient seems useful. This, as well as a database with clinical parameters reported in patients already diagnosed with the corresponding disease or that have led to the diagnosis, would facilitate the global data exchange between specialists and subsequently diagnosis. The aim of this work is to develop standardized data sets with the most frequent symptoms exemplarily for the three rare diseases late-onset Pompe disease, Gaucher disease Type I and Smith-Lemli-Opitz syndrome (SLOS).Methods and resultsA systematic literature review of characteristic symptoms and diagnostic criteria was performed for each of the three disorders. These parameters were converted into vocabulary standardized by The Human Phenotype Ontology (HPO), so-called HPO terms. Subsequently, a retrospective analysis of the patient files of 23 late-onset Pompe disease patients, 21 Gaucher disease Type I patients and 25 SLOS patients was carried out together with the University Children's Hospital Magdeburg and the Center of excellence for Rare Metabolic Diseases at the Charité Berlin. Features present in ≥ 40 % of the cohort and collected simultaneously in a certain minimum number of patients were filtered out. The analysis resulted in data sets with 20 diagnostic parameters for late-onset Pompe disease, 16 features for Gaucher disease Type I and 17 parameters for SLOS. After the statistical evaluation, the results were discussed comparatively with similar studies exemplarily for SLOS.ConclusionThe developed datasets for the three diseases provide a good basis for expansion with further patient examples and for extending the methodology to other diseases with the aim of improving the diagnostic pathway and thus the health care of patients with rare diseases.