Ignite Creation Date:
2024-05-06 @ 8:55 AM
Last Modification Date:
2024-10-26 @ 12:07 PM
Study NCT ID:
NCT02859428
Status:
TERMINATED
Last Update Posted:
2020-10-20
First Post:
2016-08-06
Brief Title:
Disease Natural History and Biomarkers of SPG3A SPG4A and SPG31
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Disease Natural History and Biomarkers of SPG3A SPG4 and SPG31
Status:
TERMINATED
Status Verified Date:
2020-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Investigator left NIH
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 Description:
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 such as the Spastic Paraplegia Rating Scale SPRS and Medical Outcomes Study Questionnaire Short Form 36 Health Survey SF-36 We also hope to develop biomarkers that could be used in future treatment trials from human serum and by utilizing transcranial magnetic stimulation TMS to determine central motor conduction times and resting motor thresholds
OBJECTIVES
The primary objective of this protocol is to study the natural history of the most common forms of autosomal dominant hereditary spastic paraplegia The information obtained from validated rating scales SPRS and SF-36 TMS and serum biomarkers 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 and SF-36 Also we will measure levels of plasma lipids insulin leptin and of certain micro RNAs to investigate their utility as biomarkers We will utilize TMS combined with nerve conducting studies to assess central motor conduction times CMCT and resting motor thresholds RMT
OBJECTIVES
The primary objective of this protocol is to study the natural history of the most common forms of autosomal dominant hereditary spastic paraplegia The information obtained from validated rating scales SPRS and SF-36 TMS and serum biomarkers 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 and SF-36 Also we will measure levels of plasma lipids insulin leptin and of certain micro RNAs to investigate their utility as biomarkers We will utilize TMS combined with nerve conducting studies to assess central motor conduction times CMCT and resting motor thresholds RMT
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 16-N-0158 | None | None | None |