Clinical trial NCT01272687: Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation
Official title: Epidemiological Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Parkinson Disease
Idiopathic Parkinson Disease
Keywords: Parkinson Disease
Parkinsonian Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurodegenerative Diseases
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2011-01-10
Enrollment: 1500
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: adult patients with a confirmed diagnosis of Parkinson's disease

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.

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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Bad Neustadt An Der Saale
country: Germany
facility: Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin
city: Dresden
country: Germany
facility: Universitätsklinikum Dresden Klinik für Neurologie
city: Giessen
country: Germany
facility: University of Giessen, Department of Neurology
city: Greifswald
country: Germany
facility: Ernst-Moritz-Arndt-University of Greifswald, Department of Neurology
city: Hamburg
country: Germany
facility: Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology
city: Hannover
country: Germany
facility: Medizinische Hochschule Hannover, Bewegungsstörungsambulanz
city: Krefeld
country: Germany
facility: Alexianer Krefeld GmbH, Krankenhaus Maria Hilf
city: Leun
country: Germany
facility: Gertrudis-Kliniken im Parkinson-Zentrum
city: Rostock
country: Germany
facility: Neurologischische Arztpraxis
city: Rostock
country: Germany
facility: Universitätsklinikum Rostock, Klinik für Neurologie
city: Sindelfingen
country: Germany
facility: Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen
city: Stralsund
country: Germany
facility: HANSE-Klinikum, Department of Neurology
city: Ulm
country: Germany
facility: University of Ulm, Department of Neurology
city: Wiesbaden
country: Germany
facility: Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie
city: Bangkok
country: Thailand
facility: Chulalongkorn University Hospital
Study officials:
affiliation: University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
name: Arndt Rolfs, MD
role: PRINCIPAL_INVESTIGATOR
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