Parkinson Disease (PD)NCT07886879
Parkinson's Disease in Type 1 Gaucher Disease
An observational study of Parkinson Disease (PD) and Type 1 Gaucher Disease, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 40 years and olderHealthy volunteers can take part
- Conditions the study is for
- Parkinson Disease (PD), Type 1 Gaucher Disease
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Sep 2026to Mar 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 40 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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.
Who may be able to join
- 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
Who cannot join
- Subjects with diminished mental capacity and unable to consent for themselves
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Drew Sinha, MD PhD, 646-761-7891, drew.sinha@mssm.edu
Rewaa Elgazzar, B.S., 646-761-7891, rewaa.elgazzar@mssm.edu
About this study
Official title: Comprehensive Phenotyping of Type 1 Gaucher Disease Patients for Prodromal Parkinson's Disease: A Behavioral and Biomarker 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.
- Conditions
- Parkinson Disease (PD), Type 1 Gaucher Disease
- Keywords
- Parkinson's Disease, Gaucher Disease, Deep Phenotyping, GBA1
- Medical subject headings
- Parkinson Disease, Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| GD1 Patients | 80 GD1 patients (with or without PD) from Mount Sinai health system and partnering Gaucher Disease treatment programs. | |
| GBA1 Heterozygotes | 10 GBA1 heterozygote individuals, preferably relatives of GD1 patients. | |
| Neurologically Healthy Non-GBA1-Carriers | 10 non-carriers for GBA1 without neurological disorder and no first degree family relative with PD. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Day 1
Secondary outcomes (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.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Oct 2026
- Study start21 Sep 2026
- Primary completionMar 2028 (estimated)
- Study completionMar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Parkinson Disease (PD)Studies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Collaborators
- Michael J. Fox Foundation for Parkinson's Research, Tel-Aviv Sourasky Medical Center
- Responsible party
- Principal investigator, Drew Sinha, Icahn School of Medicine at Mount Sinai
- Investigators
- Drew Sinha, MD PhD, Principal investigator, Icahn School of Medicine at Mount SinaiManisha Balwani, MD MS, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07886879
- Sponsor's protocol ID
- STUDY-26-00481
- Status last verified
- Nov 2026
- First submitted
- 14 Oct 2026
- Last updated
- 5 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All of the individual participant data collected during the trial, after deidentification.
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Comprehensive Phenotyping of Type 1 Gaucher Disease Patients for Prodromal Parkinson's Disease: A Behavioral and Biomarker Study
- ClinicalTrials.gov ID
- NCT07886879
- Acronym / sponsor ID
- STUDY-26-00481
- Conditions
- Parkinson Disease (PD), Type 1 Gaucher Disease
- Keywords
- Parkinson's Disease, Gaucher Disease, Deep Phenotyping, GBA1
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Collaborators
- Michael J. Fox Foundation for Parkinson's Research, Tel-Aviv Sourasky Medical Center
- Study start
- 21 Sep 2026 (actual)
- Primary completion
- Mar 2028 (estimated)
- Study completion
- Mar 2028 (estimated)
- First posted
- 21 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| GD1 Patients | – | –80 GD1 patients (with or without PD) from Mount Sinai health system and partnering Gaucher Disease treatment programs. |
| GBA1 Heterozygotes | – | –10 GBA1 heterozygote individuals, preferably relatives of GD1 patients. |
| Neurologically Healthy Non-GBA1-Carriers | – | –10 non-carriers for GBA1 without neurological disorder and no first degree family relative with PD. |
Who may qualify
- Ages
- 40 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (1 listed)
- Subjects with diminished mental capacity and unable to consent for themselves
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Parts I, II, and IV
Time frame: Day 1
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.
REM Behavioral Disorder Screening Questionnaire (RBDSQ)
Time frame: Day 1
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).
Montreal Cognitive Assessment (MoCA)
Time frame: Day 1
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.
Scales for Outcomes in Parkinson's Disease - Autonomic Dysfunction (SCOPA-AUT)
Time frame: Day 1
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.
University of Pennsylvania Smell Identification Test (UPSIT)
Time frame: Day 1
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.
Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III
Time frame: Day 1
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.
1 secondary outcome
Number of individuals with movement disorder other than Parkinson's Disease
Time frame: Day 1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Individual participant dataSharing planned: Yes. All of the individual participant data collected during the trial, after deidentification.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Drew Sinha, MD PhD principal investigator
Icahn School of Medicine at Mount Sinai
Manisha Balwani, MD MS principal investigator
Icahn School of Medicine at Mount Sinai
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Parkinson Disease (PD) and Type 1 Gaucher Disease, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Drew Sinha, MD PhD (646-761-7891, drew.sinha@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Parts I, II, and IV (time frame: Day 1). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.