Recruiting

Biomarker Analysis

Sponsor:

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Code:

NCT03811496

Conditions

Parkinson Disease

Gaucher Disease

Eligibility Criteria

Sex: All

Age: 50+

Healthy Volunteers: Accepted

Study Details

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 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

Study ID

NCT03811496

Start date

Feb 1, 2018

Status verified date

Jan, 2019

Completion date

Jul, 2020

Anticipated

Primary completion date

Feb, 2020

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 50+

Healthy Volunteers: Accepted

Inclusion Criteria:

The study will include

1. 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.
2. 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 Criteria:

Subjects excluded from the study include those who:

1. present with severe cognitive deficits impairing decision making
2. 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.
3. are pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.
4. 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.

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

GD-PD

Patients and carriers of Gaucher disease with confirmed mutations in GBA gene who have developed Parkinson's disease symptoms

GD-nonPD

Patients with Gaucher disease but no known Parkinson's symptoms

nonGD-nonPD

Non-Gaucher disease/healthy controls

Primary outcome measure

  • Gene expression levels of SNCA [ Time Frame: 18 months ]
  • Gene expression levels of LRRK2 [ Time Frame: 18 months ]
  • Gene expression levels of Parkin [ Time Frame: 18 months ]
  • Protein expression levels of alpha-synuclein [ Time Frame: 18 months ]
  • Protein expression levels of LRRK2 [ Time Frame: 18 months ]
  • Protein expression levels of Parkin [ Time Frame: 18 months ]

Central Contacts and Locations

Central contacts

Renuka Limgala, PhD

2407155382rlimgala@ldrtc.org

Ozlem Goker-Alpan, MD

7032616220ogoker-alpan@ldrtc.org

Locations

LDRTC

Recruiting

Fairfax, Virginia, United States, 22030

Contacts

Renuka Limgala, PhD

240-715-5382rlimgala@ldrtc.org

Principal Investigator:

Ozlem Goker-Alpan, MD

More Information

Sponsor

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Last update posted

Jan 23, 2019

Last verified

Jan, 2019

Keywords

  • Parkinson disease
  • Gaucher disease
  • GBA gene
  • alpha-synuclein

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Lysosomal and Rare Disorders Research and Treatment Center, Inc. on 2019-01-23.