Ignite Creation Date:
2024-05-06 @ 2:07 PM
Last Modification Date:
2024-10-26 @ 1:26 PM
Study NCT ID:
NCT04229823
Status:
UNKNOWN
Last Update Posted:
2020-07-09
First Post:
2020-01-07
Brief Title:
Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3MJD
Sponsor:
Hospital de Clinicas de Porto Alegre
Organization:
Hospital de Clinicas de Porto Alegre
Study Overview
Official Title:
Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of Machado-Joseph DiseaseSpinocerebellar Ataxia Type 3 SCA3MJD
Status:
UNKNOWN
Status Verified Date:
2020-07
Last Known Status:
ACTIVE_NOT_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:
BIGPRO
Brief Summary:
The study will consist of a prospective observation of subjects in a natural history design Disease progression will be monitored through clinical scales and video-oculography Participants will be stratified in three groups ataxic carriers pre-ataxic carriers and non-carriers controls The following clinical scales will be applied in all subjects at baseline and at months 12 and 24 SARA SCAFI CCFS NESSCA INAS and ICARS Oculomotor function will be registered using video-oculography EyeSeeCam InterAcoustics at the same time points Progression rates effect sizes and responsiveness to change will be established for all parameters and results will be compared between candidate biomarkers
Detailed Description:
Spinocerebellar ataxia type 3 also called Machado-Joseph disease SCA3MJD is an autosomal dominant neurodegenerative disorder caused by a CAG expansion CAGexp on ATXN3 Over 20 years after the identification of the causal mutation no form of prevention or treatment for this incapacitating condition was discovered Similarly to other polyglutamine polyQ diseases SCA3MJD has a slow progression Changes detected by clinical scales are small and therefore long intervals are needed to document disease progression Clinical trials using clinical scales as primary outcomes should be very long what makes them hardly feasible In this context the discovery of disease biomarkers is of utmost importance Biomarkers associated with disease progression andor with therapeutic intervention might be more easily verified than the changes measured by clinical scales Seminal studies have demonstrated that oculomotor alterations and vestibulo-ocular reflex VOR impairment may be present even during presymptomatic periods Our primary hypothesis is eye movement parameters including VOR saccades smooth pursuit and fixation measured by video-oculography could be biomarkers of SCA3MJD disease progression Besides that the investigators aim to test if the candidate biomarkers present changes before disease-onset and if their responsiveness will be better than those of clinical scales with more noticeable variations during a shorter period of time The study will consist of a prospective observation of subjects in a natural history design The investigators will monitor disease progression of the CAGexp carriers through clinical scales and video-oculography At least 75 adult subjects from Rio Grande do Sul will be invited to participate in the study and at least 50 of the participants will be asymptomatic subjects at 50 risk of carrying the mutation The study design will allow the subjects who wanted and the evaluators to stay blinded to subjects genotypes Participants will be stratified in three groups ataxic carriers pre-ataxic carriers and non-carriers controls Genotypes will be recorded separately to guarantee double blindness For every pre-ataxic carrier time until the disease-onset will be estimated by an equation previously built in which individual age and CAGexp are the determinants The following clinical scales will be applied in all subjects at baseline and at months 12 and 24 SARA SCAFI CCFS NESSCA INAS and ICARS Oculomotor function will be registered in video and analyzed using the EyeSeeCam device Progression rates of all variables will be estimated by mixed models including as covariates age groups and their interactions Progression rates effect sizes and responsiveness to change will be established for all parameters and results will be compared between candidate biomarkers
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