Neurology: at the University Hospital of Toulouse, platform for rare diseases

In Haute-Jaronne, 4,000 patients are seen each year in one of the 13 Rare Disease Centers of the Department of Neurology of the University Hospital of Toulouse; But diagnosis remains very difficult. It affects less than 1 in 2,000 people, and is often genetic in origin. Therefore, it takes an average of four years between the appearance of the first symptom and diagnosis. And between the two there is wandering.

“At the University Hospital, we have expertise in many rare diseases such as Charcot’s disease, Huntington’s disease… but in reality, each specialist works independently. Thanks to this unique platform, “Neurology Structures Rare Diseases Toulouse (NeuroSmart*), we want to encourage exchanges between experts and reduce diagnostic wandering,” says Professor Jérémie Parente, neurologist at the University Hospital of Toulouse.

– 25 treatment protocols are currently being implemented

“General practitioners and then neurologists can refer patients to us via NeuroSmart when investigations are exhausted,” explains the specialist. More complex cases are examined during multidisciplinary consultation meetings (RCP) and then referred to the most appropriate specialist. Access to innovative treatments and therapies is also facilitated. »

In fact, until now these patients have not benefited from the latest innovations. “We are currently implementing 25 treatment protocols in particular with the Center for Clinical Investigation, thirteen of which are related to therapeutics and the others to observational studies,” says Professor Parente. Illustration of frontotemporal dementia suffered by American actor Bruce Willis. “This rare disease causes behavioral disorders and does not benefit from any therapeutic resources, but we have three phase II therapeutic trials in Toulouse, in which we can include patients.”