Biomarker Analysis for GBA Associated Parkinson's Disease

Status unconfirmed

Conditions studied: Parkinson Disease, Gaucher Disease

In brief

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.

Key facts

Study ID

NCT03811496

Run by

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

People needed

100

Starts

2018-02-01

Expected to finish

2020-07-01

Last updated by the study team

2019-01-23

Who can join

Age: 50 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• The study will include
• adult subjects age 21 or older with Gaucher disease with and without parkinsonism and individuals from families with a Gaucher proband and a history of parkinsonism.
• Controls will include unaffected siblings of patients with Gaucher disease and subjects with sporadic PD, without glucocerebrosidase mutations, and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease.

You may not qualify if…

• Subjects excluded from the study include those who:
• present with severe cognitive deficits impairing decision making
• are unable to or for whom it is medically unsafe to withdraw from their current medications, such as subjects on SSRI s and other psychoactive drugs. The subjects on SSRIs may be included in the study only with an approval from the prescribing physician to discontinue their medications temporarily for the study.
• are pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.
• have a history of neurologic conditions such as stroke or any focal brain lesion that may result in parkinonian manifestations. Individuals with such MRI findings will be excluded from the study.

Where it is running

• LDRTC — Fairfax, Virginia, United States (enrolling)

Full record on ClinicalTrials.gov

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