Our goal is to create a solid and harmonious disease registry of patient affected by hereditary spastic paraplegia (HSP) that facilitates the collection and management of patients' data over time encouraging the research and the development of future clinical trials. In-depth clinical phenotyping will develop significant clinical outcome measures that can be used in clinical trials and will allow the phenotypic complexity of the disease to be captured with the use of validated clinical scales, biomarkers and so-called patient reported outcomes (PROs).
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Establishment of the STOP-HSP.net disease registry to systematically document the clinical presentation and natural history of patients affected by both pediatric-onset and adult-onset HSP
Timeframe: five years
Definition of genotype-specific disease progression measured by evaluating the scores of the clinical scale "Spastic Paraplegia Rating Scale" (SPRS)
Timeframe: five years
Identification of new genetic forms of HSP through the use of Whole Genome Sequencing (WGS) in selected familial cases
Timeframe: five years