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Development of a Multidisciplinary Network for Clinical and Laboratory Research for SMA

Spinal Muscular Atrophy Clinical Trial

Official title:
Development of a Multidisciplinary Network for Clinical and Laboratory Research for Spinal Muscular Atrophy and Other Rare Motoneuron Diseases

Clinical Trial Summary

The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests. Another goal of the study is to assess the progression of the disease in patients identified through neonatal screening.

Clinical Trial Description

The collection of 2-year longitudinal clinical data will be conducted in newly treated patients at baseline, 6-, 12-, 14- and 22-months post-treatment. Parameters will include motor function, fatigability, respiratory function, event-free survival and death, and swallowing and feeding modalities. It is anticipated that at least 30 new patients will be enrolled in the study. Importantly, information will also be collected on patients who may decide to switch treatment during the duration of our study, trying to establish if the switch to a new drug (or as an add-on should patients take a new treatment after being treated with gene therapy) may be associated with changes in clinical phenotype. The aim is to apply a newly established clinical protocol that allows identifying minor signs of disease that are easily missed in the absence of an NBS-detected diagnosis. Indeed, not all infants identified as SMA-positive through the NBS are truly asymptomatic, as a proportion of them may appear paucisymptomatic and their minor signs could be possibly not detected in the absence of a positive screening test. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT05866939
Study type Observational
Source Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact
Status Not yet recruiting
Phase
Start date June 30, 2023
Completion date June 30, 2025
View Details
See also
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