Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
This study is a registry and natural history study for people with early-onset Hereditary Spastic Paraplegia (HSP), a group of neurological diseases that cause progressive decline. The study aims to collect information and biological samples (like skin, blood, or saliva) from up to 700 participants under 30 years old who developed HSP symptoms before age 18. You can join if you have a confirmed genetic change linked to HSP, or if you are a relative of someone with such a diagnosis. The main goals are to understand the range of the disease, collect long-term data, and create a bank of samples for future research. This information will help doctors better understand HSP and plan future treatment studies.
- Study design
- This is an observational study, meaning no specific intervention is being tested. It aims to enroll up to 700 participants to gather information about early-onset Hereditary Spastic Paraplegia.
- What's involved
- Participants will provide longitudinal clinical data and biological samples (skin, blood, and/or saliva) over an average of one year.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed through study completion, which is an average of one year.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
At a glance
Conditions
NCT04712812
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Boston Children's Hospital
Boston, Massachusettsstudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Who to contact
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Inclusion
Exclusion
What this trial measures
- Establishment of disease spectrumThrough study completion, an average of 1 year
Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
- Establishment of longitudinal dataThrough study completion, an average of 1 year
Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
- Creation of biorepositoryThrough study completion, an average of 1 year
Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
- Creation of patient registryThrough study completion, an average of 1 year
Create a registry that allows for re-identification and re-contact of participants by appropriate investigators