Ignite Creation Date:
2024-05-06 @ 3:41 PM
Last Modification Date:
2025-12-17 @ 2:23 AM
Study NCT ID:
NCT04714307
Status:
None
Last Update Posted:
2021-01-19 00:00:00
First Post:
2020-12-08 00:00:00
Brief Title:
Neuropsychiatry and Cognition in SCA3/MJD
Sponsor:
Hospital de Clinicas de Porto Alegre
Organization:
Hospital de Clinicas de Porto Alegre
Study Overview
Official Title:
Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)
Status:
None
Status Verified Date:
2021-01
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
By the end of this study, the evaluated population will be composed of 144 participants: 36 ataxic SCA3/MJD carriers, 72 at 50% risk of carrying the SCA3/MJD mutation and 36 healthy controls. Ataxic subjects are invited to participate if they have an established molecular diagnosis of SCA3/MJD and have a SARA score greater than 2.5 points. At risk subjects are composed by the offspring of molecularly diagnosed SCA3/MJD subjects that have a SARA\<3. Healthy controls belonging either to families living with the disease or to the general population are invited to participate according to how well they match with ataxic subjects included in the study. Subjects are invited to participate in the study and, after constentment procedures, cognitive-affective assessments and a scale on Activities of Daily Living (ADL) are performed on a videocall. At risk subjects collect a blood sample for double bilnd determination of their carrier status. Before March 2020, all procedures were performed in person and, instead of ADL, SARA, SCAFI and CCFS were obtained.
Detailed Description:
By the end of this study the evaluated population will be composed of 144 participants 36 ataxic SCA3MJD carriers 72 at 50 risk of carrying the SCA3MJD mutation and 36 healthy controls Ataxic subjects are invited to participate if they have an established molecular diagnosis of SCA3MJD and have a SARA score greater than 25 points At risk subjects are composed by the offspring of molecularly diagnosed SCA3MJD subjects that have a SARA3 Healthy controls belonging either to families living with the disease or to the general population are invited to participate according to how well they match with ataxic subjects included in the study Subjects are invited to participate in the study and after constentment procedures cognitive-affective assessments and a scale on Activities of Daily Living ADL are performed on a videocall At risk subjects collect a blood sample for double bilnd determination of their carrier status Before March 2020 all procedures were performed in person and instead of ADL SARA SCAFI and CCFS were obtained
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None