Parkinson's Disease in Type 1 Gaucher Disease

NCT07886879 | Recruiting

• 1 other identifier: STUDY-26-00481
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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. 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

Outcome Measures

Primary Outcomes (6)

• 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.

  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).

  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.

  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.

  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.

  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.

  Day 1

Secondary Outcomes (1)

• Number of individuals with movement disorder other than Parkinson's Disease

  Day 1

Study Arms (3)

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.

Eligibility Criteria

• Age: 40 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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

You may not qualify if:

• Subjects with diminished mental capacity and unable to consent for themselves

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead
• Michael J. Fox Foundation for Parkinson's Research: collaborator
• Tel-Aviv Sourasky Medical Center: collaborator

Study Sites (1)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood-based biospecimen collection (including serum, plasma); Skin biopsy for alpha-synuclein aggregation seeding activity; Optional lumbar puncture (LP)/cerebrospinal fluid (CSF) collection

MeSH Terms

Conditions

Parkinson Disease; Gaucher Disease

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Drew Sinha, MD PhD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Manisha Balwani, MD MS

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Drew Sinha, MD PhD

CONTACT

513-260-5511; drew.sinha@mssm.edu

Rewaa Elgazzar, B.S.

CONTACT

646-0761-7891; rewaa.elgazzar@mssm.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: October 14, 2026
• First Posted: October 21, 2026
• Study Start: October 1, 2026
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: October 21, 2026

Record last verified: 2026-10

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• 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.

Locations

US (1)