MedTrace Logo

Biomarker Analysis for GBA Associated Parkinson's Disease

NCT03811496 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2019-01-23

No results posted yet for this study

Summary

The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in patients/ carriers of Gaucher disease (GD). All the assays will be performed only using peripheral blood, thus the identification of a peripheral marker that can be used in both diagnosis and prognosis of the disease and symptom severity would lead to a fast, efficient and reliable assay that can be performed on an easily accessible tissue type outside of the brain. It is now known that patients with GD, even carriers with one mutated GBA gene (OMIM 606463) are at a higher risk for developing PD, and at an earlier age. In an attempt to assess whether GBA alterations would also impact α-Synuclein and Parkin metabolism in humans, the expression at both molecular and protein level in the peripheral blood mononuclear cells (PBMCs) will be investigated.

Conditions

  • Parkinson Disease
  • Gaucher Disease

Sponsors & Collaborators

  • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    lead OTHER

Principal Investigators

  • Ozlem Goker-Alpan, MD · LDRTC

  • Renuka Limgala, PhD · LDRTC

Eligibility

Min Age
50 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2018-02-01
Primary Completion
2020-02-29
Completion
2020-07-31

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03811496 on ClinicalTrials.gov