For some rare paediatric ataxias treatments do exist, but unfortunately they are not always well-known. In oder to accelerate diagnosis and therefore a faster treatment for patients ERN-RND member David Gomez has been working on a Treatabolome for Dominant Ataxias. Treatabolomes are databases for gene and variant specific treatments that can be consulted by doctors but also patients.
In order to set up a database all the evidence in the scientific literature needs to be collected and fed into a database. This database is focusing on paediatric autosomal and episodic ataxias and is already being used in clinical practice in Gomez’ department with good resutls so far. Learn more about this project and the next steps in our video interview.
A special issue dedicated to the „Treatabolome” particularly for rare neurological and rare neuromuscular diseases has been published in the Journal Neuromuscular Diseases. Find the publications here.
Further Information (Solve-RD Treatabolome):
Solve-RD Treatabolome
Watch the video interview here.