Drug Discovery for Parkinson's With Mutations in the GBA Gene

The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and/or store the samples for future use.

Through this research, researchers hope to identify future treatments or even cures for Parkinson's disease.

Study Overview

• Status: Recruiting
• Conditions: Healthy; Parkinson Disease; Gaucher Disease; GBA Gene Mutation
• Intervention / Treatment: Other: Biological Sample Collection

Detailed Description

Researchers at the New York Stem Cell Foundation (NYSCF) Research Institute study diverse diseases, conditions, and traits by creating stem cells from biological samples. These "pluripotent" stem cells can become any cell in the human body, including cells that may be difficult, invasive, or impossible to obtain directly.

Additionally, researchers perform genetic testing to learn more about DNA, a material in most cells that contains instructions for the body's development and functions (such as traits like eye color and risk of certain diseases). A piece of DNA that determines the specific role of a cell is called a "gene." If the instructions in a gene are abnormal, this can lead to disease.

Participation in the study involves: (1) completion of health questionnaires, (2) providing a skin and/or blood sample from which stem cells may be created, (3) collection of a saliva sample for genetic analysis, and (4) possible future follow-up to provide additional information or learn about other research studies.

This study is not a clinical trial.

• Study Type: Observational
• Enrollment (Estimated): 60

Contacts and Locations

• Study Contact: Name: Becca Wood; Phone Number: 212-927-1801; Email: clinicalresearch@nyscf.org
• Study Contact Backup: Name: Lisa Voltolina; Phone Number: 6462133911; Email: lvoltolina@nyscf.org

Study Locations

• United States
  • New York
    • New York, New York, United States, 10019
      • Recruiting
      • The New York Stem Cell Foundation Research Institute
      • Contact: Becca Wood; Phone Number: 212-927-1801; Email: clinicalresearch@nyscf.org
      • Contact: Lisa Voltolina; Phone Number: Voltolina 646-213-3911; Email: lvoltolina@nyscf.org
      • Principal Investigator: Lisa Voltolina

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 98 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Individuals with a diagnosis of one or more of the listed conditions.

Individuals without a condition to serve as healthy controls (a comparison group for those with conditions).

Description

Inclusion Criteria:

• Age 18 years or older.
• Diagnosis of Parkinson's disease, Gaucher disease, or healthy control.
• Must provide written informed consent unless physical limitations preclude signing.

Exclusion Criteria:

• For skin samples collected specifically for this study: history of keloid formation, coagulation disorder, allergy to the anesthetic, or anticoagulation use that precludes sample collection.
• For blood samples collected specifically for this study: coagulation disorder or other medical condition(s) that increases the risks associated with blood collection.
• For all prospective sample collections: Subjects who refuse to adhere to NYSCF's and/or a collection site's safety protocols will be excluded. Subjects with an AIDS diagnosis and CD4 count of less than 200 cells per microliter (mcL) of blood will be excluded due to increased risk of infection.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Parkinson's Disease; Subjects in this group will have a diagnosis of Parkinson's disease with or without a known GBA gene mutation.	Other: Biological Sample Collection; Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure); Other Names: Biological sample collection for biobanking and research
Gaucher Disease; Subjects in this group with have a diagnosis of Gaucher disease with or without a known GBA gene mutation.	Other: Biological Sample Collection; Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure); Other Names: Biological sample collection for biobanking and research
Healthy Control; Subjects in this group will serve as healthy controls.	Other: Biological Sample Collection; Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure); Other Names: Biological sample collection for biobanking and research

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Establishment of a diverse bank of biological samples, stem cell lines, derivatives, and associated information.	Establish a robust disease signature using a cohort of PD and carefully matched control samples to screen a library of approximately 3,000 compounds to determine whether any compounds improve or reverse disease phenotypes.	Baseline

Collaborators and Investigators

• Sponsor: New York Stem Cell Foundation Research Institute
• Collaborators: Silverstein Foundation
• Investigators: Principal Investigator: Lisa Voltolina, New York Stem Cell Foundation Research Institute

Study record dates

Study Major Dates

• Study Start (Actual): July 15, 2022
• Primary Completion (Estimated): July 15, 2025
• Study Completion (Estimated): July 15, 2025

Study Registration Dates

• First Submitted: September 7, 2022
• First Submitted That Met QC Criteria: September 7, 2022
• First Posted (Actual): September 10, 2022

Study Record Updates

• Last Update Posted (Actual): April 10, 2024
• Last Update Submitted That Met QC Criteria: April 9, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: Parkinson Disease; GBA Gene Mutation
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Parkinsonian Disorders; Basal Ganglia Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Parkinson Disease; Gaucher Disease
• Other Study ID Numbers: 10-008

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No