O-76 Creating a local register for Rare Neurodegenerative Diseases: Improving clinical andmolecular characterization in Martinique through bioinformatics analysis
Author(s):
AG Giguet-Valard, I Antolin, A T. Vincent, N GarofaloGomez, J Smith-Ravin, JInamo, R Bellance
Year of Presentation:
2023
Objective: Design a proof-of-concept study to build local capacity for clinical and molecular characterization of rare neurodegenerative diseases.
Methods: Cornerstone for our pilot study is the creation of a synthetic registry to collect clinical and biological specificities. This step is the basis of a single-center retrospective clinical study of 300 adult patients with rare neurodegenerative disease. Next Generation Sequencing (NGS) is used to show the potential of this registry. A cohort of 14 patients who are highly susceptible to genetic damage has been tested. The experiments were subcontracted and the interpretation of the NGS data was done by our local researchers.
Results: The retrospective clinical study confirm the originality of certain phenotypes and reveals some atypical characteristics such as: a high prevalence of Huntington’s disease, a phenomenon of anticipation rarely described in a large family of amyotrophic lateral sclerosis, and a few cases of dominant or recessive spinocerebellar ataxia. The NGS allowed us to: identify very rare mutations in dominant and recessive SCA families, suspect digenism in the family case of ALS with anticipation and propose candidate genes in the case of Multisystemic Atrophia.
Conclusion: This study is a proof of concept that confirms the need to consider our Caribbean population in its specificities. The creation of a registry is essential. Based on the need to share expertise, this study opens up opportunities for collaboration and promotes cooperation.