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Parkinson's Disease in Type 1 Gaucher Disease

Comprehensive Phenotyping of Type 1 Gaucher Disease Patients for Prodromal Parkinson's Disease: A Behavioral and Biomarker Study

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
40 Years and older
Sex
All sexes
Healthy volunteers
Accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

Not stated in the study description — ask the study team about visits and procedures.

Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

Parkinson's disease (PD) is an age-related movement disorder with a complex pathophysiology. Among the risk factors for PD, variants in beta-glucocerebrosidase (encoded by the gene GBA1) represent one of the most significant heritable risk factors for lifetime PD risk. Biallelic variants in GBA1 cause Gaucher disease (GD), a multisystem disorder, and individuals with late/adult-onset GD1 have a \~1-in-9 lifetime risk for PD. This study aims to develop a cross-sectional cohort of clinical and laboratory phenotyped adult GD1 patients and controls for investigation of clinical/laboratory risk factors for current and future Parkinson risk. Neurological evaluations will be video and audio recorded to allow the investigators to quantify neurological function using automated tools. Data and specimens generated in this study will be incorporated into a de-identified biobank that will be used for further research into GD and PD.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Official eligibility criteria

Inclusion Criteria: * Subjects with a documentation of GBA1 phenotype * Subjects older than 40 years old * Either GD1 participants with or without PD * GBA1 heterozygotes with or without PD * Non-carrier controls without neurological disorder and no first-degree family relative with PD Exclusion Criteria: • Subjects with diminished mental capacity and unable to consent for themselves

Study sites (1)

NY