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.
Detailed Summary:
The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate patients with hereditary spastic paraplegia types 3A, 4 and 31. The objective of this study is to understand disease progression in these closely related forms of hereditary spastic paraplegia using validated rating scales. We also hope to develop bio- markers that could be used in future treatment trials.
OBJECTIVES
The primary objective of this protocol is study the natural history of the most common forms of autosomal dominant hereditary spastic paraplegia. The information obtained will allow for the development of treatment trials. In some cases, blood or other biologic samples (including skin biopsies) will be obtained for future laboratory studies.
STUDY POPULATION
The number of participants to be enrolled will be set to 300.
DESIGN
This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology and biomarkers.
OUTCOME MEASURES
In this study we will track disease progression using the Spastic Paraplegia Rating Scale (SPRS). Also, we will measure levels of plasma lipids, insulin, leptin, and of certain micro RNAs to investigate their utility as biomarkers.
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)
Current Primary Outcome:
- Spastic Paraplegia Rating Scale (SPRS) [ Time Frame: Ongoing ]
- SF-36 [ Time Frame: Ongoing ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: August 6, 2016
Date Started: July 29, 2016
Date Completion: September 30, 2020
Last Updated: April 21, 2017
Last Verified: December 19, 2016
