InGene: an integrated tool for data collection in neuromuscular diseases

Neuromuscular Diseases require a careful study of the gen- otype-phenotype association to understand the peculiarities of each subject affected by such conditions, and to tailor a person- alized treatment, maximizing its outcome. It is therefore pivotal to collect genetic, instrumental, muscular, physiotherapy, car- diovascular data to draw a comprehensive patient picture, defin- ing treatment plans, monitoring the course of the pathology and helping the clinicians in the patient care. In the InGene project, an integrated tool to collect such data in neuromuscular diseases was developed. It includes several modules, with an integrated user interface. The PhysioTest module allows administering physiothera- py tests, with customized interfaces for the Performance of the Upper Limb (PUL), the Six-Minute Walk Test (6MWT), the Motor Function Measure (MFM) and the North Star Ambula- tory Assessment (NSAA), as well as the Neurological Physi- cal Examination. The GenoStore module archives the patient's genotype and select patients with specific variants. The MRIndex module integrates the muscular MRI, pro- viding an index for the muscular involvement, measuring the fat infiltration within the muscle. Finally, the "InGene" module allows selecting several parameters (also from clinical dataset), applying them ex- ploratory statistical analysis of selected patients, through multivariate techniques, to retrieve patients' clusters based on correlations between genotype and phenotype as a useful research aid tool. The platform, collecting data within an Electronic Health Record, named Health360, developed as a modular, Cloud- based, Software as a Service (SaaS) platform, represents a di- agnostic aid tool for the clinicians in personalizing diagnosis and treatment plans addressed to patients with neuromuscular conditions.