Spastic Paraplegia

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

The Motor Activity Log was developed to measure paretic upper extremity use in daily activities in the real-life context (real world) of people with different health conditions, including stroke. Subsequently, the Lower Extremity Motor Activity Diary was developed. This survey is a semi-structured survey in which the participant is asked to rate himself/herself according to each scale over 14 activities.

MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss. Outcomes will evaluate the safety and tolerability of a single dose of MELPIDA, which will be measured by the treatment-associated adverse events (AEs) and serious adverse events (SAEs). Secondarily, the trial will explore efficacy in terms of disease burden assessments.

The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias(HSP) and related disorders in a prospective multicenter natural history study, to assess the clinical, genetic and epigenetic features of patients with Spastic Paraplegias to optimize clinicalmanagement..