The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female patients, under the age of 30, who exhibited early onset symptoms of HSP with (1) a clinical diagnosis of hereditary spastic paraplegia and (2) the presence of variants in HSP related genes and/or be a relative of a person with such a diagnosis. Currently, the treatment for this disorder is generally symptomatic and available therapies improve quality of life, but are grossly inefficient in slowing the disease progression. Access to the registry information will be limited to the study staff who are responsible for recruitment and maintenance of the registry. We hope that recruitment into the registry for studies will advance knowledge of the causes, clinical course, diagnosis, and treatment of these conditions.
Onset of hereditary spastic paraplegia symptoms before the age of 18 years
Under the age of 30 years old
Must have a genetically confirmed variant in HSP-related genes and a relative of an individual with a confirmed diagnosis (if applicable).
Not having such a diagnosis and/or not being related to such individual
The study population consists of male and female patients up to the age of 30 years old with a clinical and molecular diagnosis of hereditary spastic paraplegia and/or their family members of interest (if applicable).
Cohort
Prospective
Not listed
Establishment of disease spectrum
Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
Establishment of longitudinal data
Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
Creation of biorepository
Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
Creation of patient registry
Create a registry that allows for re-identification and re-contact of participants by appropriate investigators
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