View clinical trials related to Neuro-Degenerative Disease.
Filter by:This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. Subject visits will occur every 12 months + 4 weeks for up to 2 years.
The pandemic caused by SARS-CoV-2 infection has led to the emergence of diffuse and heterogeneous persistent symptoms in addition to the well-known acute symptoms, which have come to be referred to as persistent COVID. In particular, one of the frequent complaints of patients with a previous diagnosis of COVID is impaired cognitive ability. Various cognitive rehabilitation programmes have benefited from incorporating the methodology of so-called "serious games" are designed to train or change behaviour while entertaining players. The design of the online rehabilitation programme (COPERIA-COG) took into account the principles of neuropsychological rehabilitation (neuropsychological pre-assessment, operational goal setting, task prioritisation and continuous feedback system) and combined different individual techniques, such as restitution and compensation. Patients treated with COPERIA-COG will show neuropsychological improvements in verbal memory compared to the waiting list group. The main objective is to identify differences in long-term memory in patients treated with COPERIA-COG vs. patients on the waiting list. For this purpose, both groups will be evaluated through RAVLT, taking the long-term memory subtest as a reference, comparing the results before and after the active group performs the online training with COPERIA-COG. The COPERIA platform is a cloud platform that provides a range of ICT tools for monitoring and aiding the recovery of patients with persistent COVID. To achieve this goal, the platform will store patient data to which Artificial Intelligence techniques will be applied to perform an assessment of the affected person.
Since 2012, NGS sequencing of long fragments or long reads has developed in various fields of research and today presents itself as a very promising alternative solution in the analysis of repeat amplifications. The Oxford Nanopore NGS automaton offers the prospect of bringing together 1st and 2nd line analyzes of all loci potentially indicated in neurogenetics at the same time. The project aims to compare the use of this new technology with methods currently used in reference laboratories. The main objective is to evaluate the ability of next-generation high-throughput Oxford Nanopore-type sequencing (NEURONGS3) to diagnose 9 neurogenetic diseases compared to reference protocols via PCR (+/- Southern blot). The secondary objective is to evaluate the repeatability of the NGS (intra-sample reproducibility) analysis in the diagnosis of 8 neurogenetic diseases.