Status:
UNKNOWN
Biomarker Analysis for GBA Associated Parkinson's Disease
Lead Sponsor:
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Conditions:
Parkinson Disease
Gaucher Disease
Eligibility:
All Genders
50+ years
Brief 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...
Detailed Description
The GBA (OMIM 606463) gene codes for beta-glucocerebrosidase, a lysosomal enzyme. Disease causing mutations in both alleles of GBA gene cause Gaucher disease (GD) while mutations in one allele lead to...
Eligibility Criteria
Inclusion
- 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.
Exclusion
- 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.
Key Trial Info
Start Date :
February 1 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2020
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT03811496
Start Date
February 1 2018
End Date
July 1 2020
Last Update
January 23 2019
Active Locations (1)
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1
LDRTC
Fairfax, Virginia, United States, 22030