RecruitingNCT04712812

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

Sponsor

Boston Children's Hospital

Enrollment

700 participants

Start Date

Apr 27, 2020

Study Type

OBSERVATIONAL

Conditions

Hereditary Spastic Paraplegia SPG47 SPG50 SPG51 SPG52 AP4-related Hereditary Spastic Paraplegia Early Onset Hereditary Spastic Paraplegia SPG4 SPG3A SPG15 SPG11

Summary

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.

Eligibility

Max Age: 30 Years

Plain Language Summary

Simplified for easier understanding

This study is creating a registry and collecting natural history data on children and young adults with early-onset Hereditary Spastic Paraplegia (HSP). HSP is a group of rare inherited neurological disorders that cause progressive stiffness and weakness in the legs. When it begins in childhood, it can significantly affect mobility and development. There are many different genetic causes, and more research is needed to understand how the disease progresses across different gene variants. The registry will track participants over time to understand disease milestones, progression rates, and outcomes. This information will be valuable for designing future clinical trials and developing new treatments. You may be eligible if... - You developed HSP symptoms before age 18 - You are under 30 years old - You have a genetically confirmed variant in an HSP-related gene - You are a relative of an individual with confirmed HSP (if applicable) You may NOT be eligible if... - You do not have a confirmed diagnosis of HSP - You are not related to someone with a confirmed HSP diagnosis (if participating as a family member) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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