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

NCT ID: NCT01272687

Last Updated: 2021-04-09

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 1500 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2011-01-31
• Study Completion Date: 2017-06-30

Brief Summary

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.

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.

Conditions

Parkinson Disease; Idiopathic Parkinson Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Observation

Adults (\>18 years) with a confirmed diagnosis of Parkinson's disease

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

CENTOGENE GmbH Rostock

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Arndt Rolfs, MD

Role: PRINCIPAL_INVESTIGATOR

University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Locations

Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin

Bad Neustadt an der Saale, , Germany

Universitätsklinikum Dresden Klinik für Neurologie

Dresden, , Germany

University of Giessen, Department of Neurology

Giessen, , Germany

Ernst-Moritz-Arndt-University of Greifswald, Department of Neurology

Greifswald, , Germany

Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology

Hamburg, , Germany

Medizinische Hochschule Hannover, Bewegungsstörungsambulanz

Hanover, , Germany

Alexianer Krefeld GmbH, Krankenhaus Maria Hilf

Krefeld, , Germany

Gertrudis-Kliniken im Parkinson-Zentrum

Leun, , Germany

Neurologischische Arztpraxis

Rostock, , Germany

Universitätsklinikum Rostock, Klinik für Neurologie

Rostock, , Germany

Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen

Sindelfingen, , Germany

HANSE-Klinikum, Department of Neurology

Stralsund, , Germany

University of Ulm, Department of Neurology

Ulm, , Germany

Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie

Wiesbaden, , Germany

Chulalongkorn University Hospital

Bangkok, , Thailand

Countries

Germany; Thailand

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Other Identifiers

PD02/2011

Identifier Type: -

Identifier Source: org_study_id