Spastic Paraplegia - Centers of Excellence Research Network

The hereditary spastic paraplegias (HSPs) include over 80 rare neurogenetic disorders, collectively representing the most prevalent cause of inherited spasticity and related disabilities globally. In all forms of HSP, there is a progressive deterioration of the long axonal tracts, resulting in substantial motor dysfunction and various other symptoms. Primary lateral sclerosis (PLS) is a related, degenerative neurological disorder characterized by the progressive deterioration of upper motor neurons. Both conditions result in muscle weakness and spasticity, with significant morbidity and impact on quality of life. The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). SP-CERN provides a registry?registry An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment. and natural history study across the whole age span, a biobank?biobank A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later., and a genome archive. This will set the stage for a multitude of opportunities for improved diagnosis and trial readiness. A second objective is to harmonize this effort with similar consortia, especially in Europe, in addition to Asia, South America, and Africa, to help accelerate basic and clinical research on HSP and PLS on a global level. In summary, SP-CERN will support critical research infrastructure for collaborative high-quality research on HSP and PLS in North America and beyond. General aims include: A. Establish a shared clinical database, a repository of biospecimen samples, and a central database for the storage of all genetic data in SP-CERN. B. Synchronize and harmonize collaborations between institutions, clinical sites, and international collaborators through the development of a central research protocol in order to standardize outcome measures and maximize the quality of research and data to ensure clinical trial?clinical trial A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects. readiness by regulatory standards. C. Build comprehensive programs for advancements in diagnosis, provide more opportunities for innovative treatments, and increase access to high-quality healthcare for HSP and PLS patients. Specific aims for this first pilot study are: 1a. Enrollment?Enrollment The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined. of 100 individuals with genetically-confirmed hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database. 1b. Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.