Study of Clinical Features, Biomarkers, and Causes in Hereditary Spastic Paraplegia and Related Disorders

What this Trial Is About

Researchers are conducting a prospective multicenter natural history study to understand the range and progression of Hereditary Spastic Paraplegias HSP and related disorders. The study aims to identify digital, imaging, and molecular biomarkers that may help in diagnosis and therapy development, as well as explore the genetic causes and molecular mechanisms of these diseases. Participants affected by HSP or related disorders, their unaffected first or second-degree family members, and unrelated healthy controls will be followed annually. Each study visit includes a standardized clinical examination with clinical rating scales to measure disease severity and progression. Participants may also provide biosamples such as blood, urine, cerebrospinal fluid, or skin biopsies, and may undergo additional tests like imaging, movement analysis, neuropsychological exams, and advanced genetic sequencing if no genetic diagnosis exists. Throughout the study, data will be collected and entered into a clinical database. Researchers will monitor changes in the Spastic Paraplegia Rating Scale SPRS total score over up to two years. Participants can expect regular assessments, optional biosampling, and comprehensive evaluations to track disease features and progression over time. The study is planned to continue until August 2041.

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders