Clinical Trial: Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational




Official Title: Disease Natural History and Biomarkers of SPG3A, SPG4A and SPG31

Brief Summary:

Background:

Hereditary spastic paraplegia (HSP) usually progresses slowly. Researchers want to learn more about how its symptoms change over time. They want to look for changes in the blood and cells of people with the most common forms of HSP that might allow them to better understand the disease.

Objectives:

To learn more about common forms of hereditary spastic paraplegia and find out how it progresses over time.

Eligibility:

People age 7 and older with SPG3A, SPG4A, or SPG31

Design:

Participants will have 1 two-hour visit each year for up to 5 years.

At 1 visit, adult participants may have a skin biopsy. An area of skin will be numbed then a tool will remove a small piece of skin.

At all visits, all participants will have a physical exam and blood drawn.

At all visits, participants will do a few tasks like walking quickly and climbing stairs.

Participants can give permission for their skin cells, DNA samples, and data to be used in other studies. The samples and data will have no identifying information.