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

To be part of this study, you would generally fall into one of three groups. You might have been diagnosed with Hereditary Spastic Paraplegia (HSP) or a closely related condition, either based on your symptoms or a genetic test. We also welcome close family members (like parents, children, or siblings) of someone with HSP, even if they don't have the condition themselves.

Alternatively, you could join as a healthy volunteer who doesn't have HSP or similar conditions. These healthy volunteers help researchers compare results and understand what's typical. Whichever group you're in, you'll need to be able to understand the study and agree to take part.

There are also a few reasons why someone might not be able to join. For example, if a healthy volunteer shows signs of another brain or movement disorder, or if anyone is unable to understand or agree to join the study, they wouldn't be able to participate.

If you decide to take part in this study, you would visit the study centre once a year. During these visits, doctors would perform a standard check-up and assess your condition using special scales designed to measure symptoms. All this information would be added to a secure database for HSP research.

You would also be asked if you'd be willing to provide some samples, such as blood, urine, or even a small skin sample (this is completely optional, and you can choose which, if any, you'd like to provide). For some participants, depending on their individual situation, there might be extra assessments like scans, detailed movement analysis, memory tests, or in-depth molecular tests.

If you don't have a genetic diagnosis for your condition yet, the researchers might also offer to perform a special genetic test called 'next-generation sequencing' to look for potential genetic causes. There's no specific end date mentioned for how long you'd be followed, as it's designed to track progression over time.