An observational study in Parkinson Disease (PD) and Type 1 Gaucher Disease, sponsored by Icahn School of Medicine at Mount Sinai. Recruiting at 1 site in United States. Open to participants aged 40 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-21.
Sponsored by Icahn School of Medicine at Mount Sinai · Observational
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.
4,583 studies on the registry are indexed under Parkinson Disease; 1,097 are open to participants now.
This study's planned enrollment of 100 is close to the median of 97 across 1,081 observational studies indexed under Parkinson Disease.
Browse Parkinson Disease studies →Icahn School of Medicine at Mount Sinai is the lead sponsor of 772 studies on the registry; 175 are open to participants now.
Of its 124 completed or terminated interventional studies of FDA-regulated products, 83 (67%) have results posted.
Counted across the registry records on this site, refreshed daily.
Type 1 Gaucher Disease patients currently receiving their care at the Mount Sinai Health System or partnering Gaucher Disease treatment programs will be screened for eligibility. GBA1 carrier and non-carrier participants will be recruited from the interested relatives of our GD patients. It is expected most of our participants live in the northeast United States, speak fluent English, and are of Ashkenazi Jewish ancestry as there is a higher prevalence of GD in this ethnic group.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
80 GD1 patients (with or without PD) from Mount Sinai health system and partnering Gaucher Disease treatment programs.
10 GBA1 heterozygote individuals, preferably relatives of GD1 patients.
10 non-carriers for GBA1 without neurological disorder and no first degree family relative with PD.
Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Parts I, II, and IV
The MDS-UPDRS is a standardized clinical assessment used by neurologists to study PD. Three parts (I/II/IV) are used to evaluate individuals' symptoms of Parkinson's Disease, including non-motor and motor experiences of daily living and common PD comorbidities. Each part contains several items (each rated by severity on a 0 to 4 scale) Part I (subscale from 0-52), Part II (subscale from 0-52), and Part IV (subscale from 0-24) are summed for a total score from 0-128. A higher score indicates higher severity of PD-related symptoms.
Time frame: Day 1
REM Behavioral Disorder Screening Questionnaire (RBDSQ)
RBDSQ is a simple 10-item yes/no response screening questionnaire to screen for REM sleep behavior disorders, a known risk factor for PD. The range for this scale is 0 to 13 points. Each item contributes 1 point except a single item that contributes 4 points for up to four specific manifestations of REM Behavior Disorders. A score of 5 or higher indicates a positive screening threshold for REM Behavioral Disorder (RBD).
Time frame: Day 1
Montreal Cognitive Assessment (MoCA)
MoCA is a 10-minute cognitive screening tool used to detect mild-cognitive impairment (MCI) by assessing short-term memory, visuospatial abilities, executive functions, attention and concentration, working memory, language, and orientation to time and place. The scale ranges from 0 to 30 points. Severe impairment scores between 0-9 and normal cognitive performance scored at 26 and above. The higher the score, the less cognitive impairment.
Time frame: Day 1
Scales for Outcomes in Parkinson's Disease - Autonomic Dysfunction (SCOPA-AUT)
SCOPA-AUT is a 25-item questionnaire used to assess autonomic symptoms (gastrointestinal, urinary, cardiovascular, thermoregulatory, pupillomotor, sexual) in patients with Parkinson's disease. This scale includes subscales for gastrointestinal (0-7), urinary (0-6), cardiovascular (0-3), thermoregulatory (0-4), pupillomotor (0-1), and sexual (2 items for men and 2 items for women) symptoms. Total scale ranges from 0-23 where a higher score in any or total symptoms indicates higher severity.
Time frame: Day 1
University of Pennsylvania Smell Identification Test (UPSIT)
UPSIT is a reliable 40-item test of olfactory function using microencapsulated odorants which are released by scratching scent strips across four small booklets. The individual then picks the answer from a list of four multiple-choice options. The final score is the number of correct answers between 0 and 40. A lower score indicates olfactory dysfunction, and a higher score indicates a more normal sense of smell.
Time frame: Day 1
Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III
This section includes 18 items assessing tone, tremor, gait, movement, and posture at various sites of the body which are all rated on a scale of 0 to 4, with 4 indicating more severe symptoms. It also includes four yes/no questions regarding current medication / treatment for ongoing dyskinesia during the examination as well as a single 0 to 5 rating on overall functional status, with higher ratings reflecting greater functional impairment. The score ranges from 0-133 with higher score indicating more severe impairment.
Time frame: Day 1
Number of individuals with movement disorder other than Parkinson's Disease
The number of individuals that have another movement disorder on this examination not covered by the UPDRS III.
Time frame: Day 1
Plan to share: Yes — All of the individual participant data collected during the trial, after deidentification.
Supporting information: Study protocol, Informed consent form
Time frame: Immediately following publication. No end date.
Access criteria: Investigators whose proposed use of the data has been approved by an independent review committee identified for this purpose. Data and specimens will be made available after study completion through the study sponsor. Procedures for accessing individual or all data and specimens is most comprehensively covered through the study sponsor's publicly available website.
Data sharing details ↗ · www.michaeljfox.org
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Icahn School of Medicine at Mount Sinai →