Study on the impact of the disease on the quality of life and on the daily lives of families concerned by metachromatic leukodystrophy (MLD): Results presentation at the Parisian Pediatric Days on 10 and 11 December 2021.
This study was conducted on the platform Leuconnect created by ELA International, in partnership with ORCHARD Therapeutics, ARGO Santé (Health research & consultancy company), and under the expertise of Dr. Caroline Sevin (Centre de Référence Leucodystrophie, Service de Neuropédiatrie, Hôpital de Bicêtre, Paris) and of Dr. Magalie Barth (Service de génétique, Hôpital universitaire d’Angers, Angers).
Opened in 2020, the study was closed in 2021 and led to a publication that highlights the difficulty in:
- Identification first signs
- How to face diagnosis
- Management of daily life with the disease and its constraints
These results provide a better understanding of the family journey and open reflection on how to improve the daily lives of these patients. Early diagnosis is a major issue in this pathology and families are an invaluable source to better understand the pathology.
The experts thank the families for their participation in this study.