PYRAMID (Phenotype Research for ALS Modifier Discovery) study

Amyotrophic lateral sclerosis is a neurodegenerative disorder of the motor system. Due to progressive paralysis symptoms, median survival is limited to only 36 months after disease onset. About 10% of patients suffer from an inherited form of the disease. In this hereditary form, the disease can be explained in about 85% of patients by mutations in one of the following four genes: C9orf72, SOD1, TARDBP or FUS. In the majority of patients without a positive family history, the cause is unknown. Not only is there heterogeneity in the causes of the disease, the disease course is also highly variable. Riluzole is the only drug with proven beneficial effect on disease progression. This study will look for factors influencing disease progression by comparing patients with rapid disease progression with patients with slow disease progression.

New patients with a diagnosis of ALS will be able to participate in this academic study, which will involve thorough phenotyping on the one hand (including ALS-FRS, screening for cognitive abnormalities, quantification of motor axonal loss with MUNIX, pulmonary function, MRI), and collection of biosamples (DNA, RNA, serum, lumbar fluid) on the other. The aim of the study is to create a detailed database of clinical data and samples from ALS patients. These will be used to identify factors determining disease progression. The study is being conducted at UZ Leuven Gasthuisberg under the direction of Prof Dr Philip Van Damme. The analysis of research results will take place in a European context, with several other European ALS centres contributing.

If you are interested in participating in this study, please contact the study coordinator, Annemie Devroye, 016 347294, annemie.devroye@uzleuven.be.