Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers

NCT03234478 | Completed

• 2 other identifiers: Pro20200007291K23NS097625-01A1
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief Summary

Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS). Studies suggest that PD patients with mutations in the glucocerebrosidase (GBA) gene are at high risk for cognitive impairment and approximately 10-17% of subjects undergoing DBS carry GBA mutations. There may be an interaction between STN-DBS, which also impairs cognitive function, and GBA, resulting in worsened cognitive function. This project will 1) determine the relationship between GBA mutation status and post-operative STN-DBS cognitive function, 2) broaden genotype-phenotype relationships of GBA mutation carriers and 3) provide scientific knowledge regarding the longitudinal cognitive effects of DBS in GBA mutation carriers through repeated neuropsychological testing.

Conditions

Parkinson; Parkinson Disease; Genetic Predisposition; GBA Gene Mutation; Cognitive Decline

Keywords

deep brain stimulation; cognition; young onset Parkinson disease

Outcome Measures

Primary Outcomes (1)

• Mattis Dementia Rating Scale

  scale to assess global cognition

  2 years

Secondary Outcomes (3)

• NIH toolbox cognition battery

  1 year

• Neuro-QoL

  2 years

• PROMIS

  2 years

Study Arms (4)

GBA mutation carriers without DBS

Parkinson's disease patients who have moderate to advanced disease but have not undergone deep brain stimulation. Subjects will be tested for GBA mutation status as part of this study.

Other: cognitive assessments

non-mutation carriers without DBS

Parkinson's disease patients who have moderate to advanced disease but have not undergone deep brain stimulation. Subjects will be tested for GBA mutation status as part of this study.

Other: cognitive assessments

GBA mutation carriers with DBS

Parkinson's disease patients who have moderate to advanced disease and have undergone deep brain stimulation. Subjects will be tested for GBA mutation status as part of this study.

Other: cognitive assessments

non-mutation carriers with DBS

Parkinson's disease patients who have moderate to advanced disease and have undergone deep brain stimulation. Subjects will be tested for GBA mutation status as part of this study.

Other: cognitive assessments

Interventions

cognitive assessments OTHER

Cognitive assessments will be performed at baseline, 1 year, and 2 years, depending on subject cohort placement

GBA mutation carriers with DBS; GBA mutation carriers without DBS; non-mutation carriers with DBS; non-mutation carriers without DBS

Eligibility Criteria

• Age: 30 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Parkinson's disease subjects with onset of symptoms under age 60 with moderate to advanced disease. Subjects can be with OR without deep brain stimulation.

You may qualify if:

• Parkinson's disease
• onset of symptoms under age 60
• at least 5 years of disease
• with OR without deep brain stimulation

You may not qualify if:

• dementia

Sponsors & Collaborators

• Rutgers, The State University of New Jersey: lead
• National Institutes of Health (NIH): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Rutgers-Robert Wood Johnson Medical School

New Brunswick, New Jersey, 08901, United States

Location

Related Publications (1)

• Pal GD, Hall D, Ouyang B, Phelps J, Alcalay R, Pauciulo MW, Nichols WC, Clark L, Mejia-Santana H, Blasucci L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA, Marder K; Consortium on Risk for Early Onset Parkinson's Disease (CORE-PD) Investigators. Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease. Mov Disord Clin Pract. 2016 Sep-Oct;3(5):465-471. doi: 10.1002/mdc3.12309. Epub 2016 Jan 18.

  PMID: 27709117 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

blood will be retained for analysis of GBA metabolites.

MeSH Terms

Conditions

Parkinson Disease; Genetic Predisposition to Disease; Cognitive Dysfunction; Parkinsonian Disorders

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Cognition Disorders; Neurocognitive Disorders; Mental Disorders

Study Officials

• Gian Pal

  Rutgers University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Neurological Sciences

Study Record Dates

• First Submitted: July 25, 2017
• First Posted: July 31, 2017
• Study Start: July 1, 2017
• Primary Completion: June 30, 2024
• Study Completion: June 30, 2024
• Last Updated: November 21, 2024

Record last verified: 2024-11

Locations

US (1)