Category: Events

The combination of newborn screening, care pathway and respective therapies led to a major breakthrough for rare diseases in this study: “Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy”.

The study was conducted in the German expert centers Hannover and Tübigen over the period of nearly 2 years. By using a three-tiered screening strategy 3 of over 100.000 newborn infants were screened positive for MLD and received treatment in accordance with the proposed care pathway. 

Find the whole article here.

Patient Journeys are practical quick overviews that guide you through the stages of a rare neurological disease. But do you know how patient journeys are developed? From the first draft made by a patient advocate over surveys and evaluations by clinicians – a patient journey is a lot of work.

How exactly this development process looks like and which ways of disseminating we are focusing on – listen to EURORDIS new episode of ERNs on Air (episode 6) and find out: https://www.eurordis.org/rare-on-air/