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

NCT ID: NCT05536388

Last Updated: 2025-03-03

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 60 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-07-15
• Study Completion Date: 2025-07-15

Brief Summary

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.

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.

Conditions

Parkinson Disease; Gaucher Disease; Healthy; GBA Gene Mutation

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: PROSPECTIVE

Study Groups

Parkinson's Disease

Subjects in this group will have a diagnosis of Parkinson's disease with or without a known GBA gene mutation.

Biological Sample Collection

Intervention Type: OTHER

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)

Gaucher Disease

Subjects in this group with have a diagnosis of Gaucher disease with or without a known GBA gene mutation.

Biological Sample Collection

Intervention Type: OTHER

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)

Healthy Control

Subjects in this group will serve as healthy controls.

Biological Sample Collection

Intervention Type: OTHER

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)

Interventions

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)

Intervention Type: OTHER

Other Intervention Names

Biological sample collection for biobanking and research

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Silverstein Foundation

UNKNOWN

Sponsor Role: collaborator

New York Stem Cell Foundation Research Institute

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Laura Andres-Martin

Role: PRINCIPAL_INVESTIGATOR

New York Stem Cell Foundation Research Institute

Locations

The New York Stem Cell Foundation Research Institute

New York, New York, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Clinical Research Office

Role: CONTACT

clinicalresearch@nyscf.org

212-927-1801

Facility Contacts

Clinical Research Office

Role: primary

clinicalresearch@nyscf.org

212-927-1801

Other Identifiers

10-008

Identifier Type: -

Identifier Source: org_study_id