Ignite Creation Date:
2024-06-16 @ 11:51 AM
Last Modification Date:
2024-10-26 @ 3:31 PM
Study NCT ID:
NCT06451419
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2024-06-28
First Post:
2024-05-21
Brief Title:
Non Motor Symptoms in Glucocerebrosidase-related Parkinsons Disease
Sponsor:
Juan Pablo Romero MD PhD
Organization:
Universidad Francisco de Vitoria
Study Overview
Official Title:
Prospective and Controlled Glucocerebrosidase-related Parkinsons Disease Evaluation of Non Motor Symptoms PROGENS-PD
Status:
ENROLLING_BY_INVITATION
Status Verified Date:
2024-06
Last Known Status:
None
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:
PROGENS-PD
Brief Summary:
The goal of this observational study is to describe non motor symptoms in a prospective study of patients with Parkinsons disease associated to glucocerebrosidase GBA-PD mutations
The main questions it aims to answer are
Do GBA-PD patients have a greater burden of non motor symptoms
How do these non motor symptoms evolve during a prospective follow up of two years
Are these non motor symptoms different from those that affect Parkinsons disease patients without glucocerebrosidase mutations non GBA-PD in prevalence severity and type
Do these non motor symptoms correlate with objective measures such as posturography or speed reaction tests
Is there a test or combination of tests that can predict the appearance of early or severe non motor symptoms
For this reason researchers will compare the GBA-PD group of patients with a group of non mutated GBA Parkinson disease
Participants will undergo a neurological and neuropsychological evaluation with different tests in subsequent visits for a total of 2 years
The main questions it aims to answer are
Do GBA-PD patients have a greater burden of non motor symptoms
How do these non motor symptoms evolve during a prospective follow up of two years
Are these non motor symptoms different from those that affect Parkinsons disease patients without glucocerebrosidase mutations non GBA-PD in prevalence severity and type
Do these non motor symptoms correlate with objective measures such as posturography or speed reaction tests
Is there a test or combination of tests that can predict the appearance of early or severe non motor symptoms
For this reason researchers will compare the GBA-PD group of patients with a group of non mutated GBA Parkinson disease
Participants will undergo a neurological and neuropsychological evaluation with different tests in subsequent visits for a total of 2 years
Detailed Description:
Parkinsons disease is the second most prevalent neurodegenerative disorder worldwide Up to date the main risk factor for its development is carrying an heterozygous mutation in glucocerebrosidase gene GBA GBA codifies for a GC-ase protein that takes part in lysosomal function The homozygous mutation of this gene gives rise to Gaucher disease which is a lysosomal disorder This gene has also been associated with Lewy body dementia
The presence of an heterozygous mutation in GBA in Parkinsons disease can be found in up to 5-15 of the patients depending on age and ethnicity It has been described that those patients carrying the mutation can have an earlier debut of the disease
According to non motor symptoms patients are prone to develop earlier and more severe motor symptoms This has been studied specially in cognitive impairment but also dysautonomia impulse control disorder and others
In relation to cognitive impairment these patients usually develop an earlier and more severe affection reaching dementia states earlier in the disease Some studies have described a worsening in cognitive function in GBA mutated patients after deep brain stimulation DBS to treat parkinsonian symptoms This prevents patients from being candidates to therapies such as DBS
For this reason the investigators consider it important to make a proper description of non motor symptoms in GBA mutated parkinsonian patients since this finding can help to delineate the prognosis and choose individualized treatments regarding the suggested differences with other Parkinsons disease patients
It is an observational prospective cohort study Participants will be collected from a subgroup of patients that have agreed to undertake a genetic test including a panel of genes associated to Parkinsons disease
According to the results patients will be subdivided in two groups according to their genetic status
GBA heterozygous mutations
Absence of genetic mutations
These patients will undergo neurologic evaluations neuropsychological evaluations and self-administered evaluations There will be no intervention
The pharmacologic and other type of treatment assessments will be conducted during their regular follow up with their neurologist
These visits will be repeated every 6 months for a total of 2 years Total of 5 visits for each patient
The presence of an heterozygous mutation in GBA in Parkinsons disease can be found in up to 5-15 of the patients depending on age and ethnicity It has been described that those patients carrying the mutation can have an earlier debut of the disease
According to non motor symptoms patients are prone to develop earlier and more severe motor symptoms This has been studied specially in cognitive impairment but also dysautonomia impulse control disorder and others
In relation to cognitive impairment these patients usually develop an earlier and more severe affection reaching dementia states earlier in the disease Some studies have described a worsening in cognitive function in GBA mutated patients after deep brain stimulation DBS to treat parkinsonian symptoms This prevents patients from being candidates to therapies such as DBS
For this reason the investigators consider it important to make a proper description of non motor symptoms in GBA mutated parkinsonian patients since this finding can help to delineate the prognosis and choose individualized treatments regarding the suggested differences with other Parkinsons disease patients
It is an observational prospective cohort study Participants will be collected from a subgroup of patients that have agreed to undertake a genetic test including a panel of genes associated to Parkinsons disease
According to the results patients will be subdivided in two groups according to their genetic status
GBA heterozygous mutations
Absence of genetic mutations
These patients will undergo neurologic evaluations neuropsychological evaluations and self-administered evaluations There will be no intervention
The pharmacologic and other type of treatment assessments will be conducted during their regular follow up with their neurologist
These visits will be repeated every 6 months for a total of 2 years Total of 5 visits for each patient
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