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

NCT05536388 | Recruiting

• 1 other identifier: 10-008
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

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.

Conditions

Parkinson Disease; Gaucher Disease; Healthy; GBA Gene Mutation

Keywords

Parkinson Disease; GBA Gene Mutation

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (3)

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

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

Healthy Control

Subjects in this group will serve as healthy controls.

Other: Biological Sample Collection

Interventions

Biological Sample Collection 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)

Also known as: Biological sample collection for biobanking and research

Gaucher Disease; Healthy Control; Parkinson's Disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• New York Stem Cell Foundation Research Institute: lead
• Silverstein Foundation: collaborator

Study Sites (1)

The New York Stem Cell Foundation Research Institute

New York, New York, 10019, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

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)

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

• Laura Andres-Martin

  New York Stem Cell Foundation Research Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Clinical Research Office

CONTACT

212-927-1801; clinicalresearch@nyscf.org

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 7, 2022
• First Posted: September 10, 2022
• Study Start: July 15, 2022
• Primary Completion: July 15, 2025
• Study Completion: July 15, 2025
• Last Updated: March 3, 2025

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)