Atlas

Atlas

As one of the main outcomes of CoMPaSS-NMD, the CoMPaSS-NMD Neuromuscular Genome Atlas (NMDGA) is a repository of the genetic, imaging, and histopathological data of 4,400 patients from six clinical centres in five countries. The CoMPaSS-NMD Atlas offers the additional advantage of preparing a more precise definition of HNMDs by setting up a landmark muscle genomic program.

The NMDGA platform acts as a common data portal, in which data can be centrally analysed, searched for, and filtered, to facilitate discovery and inspection of patients’ data available in clinical centres. The aim is not to centrally store all patients’ data, as this would not be possible due to regulatory constraints, but to offer a centralised, user-friendly catalogue of patients’ data, in which metadata, describing in detail the nature of available patient’s data, allow researchers to identify relevant information thanks to detailed attributes, low-resolution imaging data previews, and relationships between metadata, and to refer to unique identifiers for the access to raw data locally in clinical centres. 

The data collected in the Atlas are publicly available and easily accessible through modern browsers from desktop computers as well as mobile and tablet devices, to the research and health community, with a great benefit for the HNMD patients, who receive a more accurate and personalised diagnosis, no longer based solely on medical examination. 

Over time, the systematic accumulation of clinical information will increase the capacity of analysis, expanding the possibility of creating solutions focused on the integration of health data to support patients, healthcare professionals and citizens.

The CoMPaSS-NMD Atlas will be available in 2025