Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation (PadGau)

April 8, 2021 updated by: CENTOGENE GmbH Rostock

Epidemiological Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation

The genotype-phenotype correlation in patients with Parkinson's disease with specific mutations in the glucocerebrosidase gene (Gaucher gene) is known from own clinical experiences as well as from case reports in the literature. The epidemiological study will determine the frequency of heterozygous mutations in the glucocerebrosidase gene and correlate to the clinical onset and development by measuring and documenting severity of symptoms (e.g. cognitive deficits, L-dopa responsiveness, depression) in clinically well-characterized Parkinson's patients.

Study Overview

Status

Completed

Conditions

Detailed Description

Parkinson's disease (also known as Parkinson's, Parkinson disease, or PD) is a degenerative disorder of the central nervous system that impairs motor skills, cognitive processes, and other functions. The most obvious symptoms are motor-related, including tremor, rigidity, slowness of movement, and postural instability. Among non-motor symptoms are autonomic dysfunction and sensory and sleep difficulties. Cognitive and neurobehavioral problems, including dementia, are common in the advanced stages of the disease. PD usually appears around the age of 60, although there are young-onset cases.

Gaucher's disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.

Symptoms of Parkinson's syndrome in classical type 1 Gaucher patients were first systematically described in 1996. In GD patients, a marked heterogeneity is detected in terms of disease-causing mutations. In 17 Gaucher patients with symptoms of Parkinson's disease, 12 different genotypes were sequenced and compared to other Parkinson's patients, a lower L-dopa responsiveness, a higher frequency of cortical dysfunction and a relatively early onset of the symptoms was described. Many of these Gaucher patients with clinical Parkinson's symptoms had a positive family history of Parkinson's disease among relatives with heterozygous mutations in the Gaucher gene that could be confirmed in systematic studies.

Study Type

Observational

Enrollment (Actual)

1500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
      • Bad Neustadt An Der Saale, Germany, 97616
        • Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin
      • Dresden, Germany, 01307
        • Universitätsklinikum Dresden Klinik für Neurologie
      • Giessen, Germany, 35385
        • University of Giessen, Department of Neurology
      • Greifswald, Germany, 17489
        • Ernst-Moritz-Arndt-University of Greifswald, Department of Neurology
      • Hamburg, Germany, 20246
        • Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology
      • Hannover, Germany, 30625
        • Medizinische Hochschule Hannover, Bewegungsstörungsambulanz
      • Krefeld, Germany, 47805
        • Alexianer Krefeld GmbH, Krankenhaus Maria Hilf
      • Leun, Germany, 35638
        • Gertrudis-Kliniken im Parkinson-Zentrum
      • Rostock, Germany, 18057
        • Neurologischische Arztpraxis
      • Rostock, Germany, 18147
        • Universitätsklinikum Rostock, Klinik für Neurologie
      • Sindelfingen, Germany, 71085
        • Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen
      • Stralsund, Germany, 18410
        • HANSE-Klinikum, Department of Neurology
      • Ulm, Germany, 89081
        • University of Ulm, Department of Neurology
      • Wiesbaden, Germany, 65191
        • Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie
  • Thailand
      • Bangkok, Thailand, 10330
        • Chulalongkorn University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

adult patients with a confirmed diagnosis of Parkinson's disease

Description

Inclusion Criteria:

  • Male or female patients at 18 years old
  • Patients with confirmed diagnosis of Parkinson's disease
  • Signed informed consent

Exclusion Criteria:

  • Male or female patients being younger than 18 years old
  • Patients without confirmed diagnosis of Parkinson's disease
  • Missing signed informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Observation
Adults (>18 years) with a confirmed diagnosis of Parkinson's disease

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CENTOGENE GmbH Rostock

Investigators

  • Principal Investigator: Arndt Rolfs, MD, University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2011

Primary Completion (Actual)

June 1, 2016

Study Completion (Actual)

June 1, 2017

Study Registration Dates

First Submitted

January 7, 2011

First Submitted That Met QC Criteria

January 7, 2011

First Posted (Estimate)

January 10, 2011

Study Record Updates

Last Update Posted (Actual)

April 9, 2021

Last Update Submitted That Met QC Criteria

April 8, 2021

Last Verified

April 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PD02/2011

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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