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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01272687
Recruitment Status : Recruiting
First Posted : January 10, 2011
Last Update Posted : May 21, 2018
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock

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.

Condition or disease
Parkinson Disease Idiopathic Parkinson Disease

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
Estimated Enrollment : 1500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Epidemiological Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation
Actual Study Start Date : January 2011
Estimated Primary Completion Date : December 2019
Estimated Study Completion Date : December 2019

Resource links provided by the National Library of Medicine

all adult Patients at 18 years with a confirmed diagnosis of Parkinson's disease

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
adult patients with a confirmed diagnosis of Parkinson's disease

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01272687

Contact: Arndt Rolfs, MD 49-381-494 ext 9540
Contact: Matthias Wittstock, MD 49-381-494 ext 4791

Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin Recruiting
Bad Neustadt, Germany, 97616
Contact: Matthias Hahne, MD    +49 9771 ext 9080   
Principal Investigator: Matthias Hahne, MD         
Universitätsklinikum Dresden Klinik für Neurologie Recruiting
Dresden, Germany, 01307
Contact: Alexander Storch, MD    +49 351 458 ext 2532   
Sub-Investigator: Mareike Fauser, MD         
University of Giessen, Department of Neurology Recruiting
Giessen, Germany, 35385
Contact: Christian Tanislav, MD    +49 641 9854 ext 5372   
Sub-Investigator: Christian Tanislav, MD         
Ernst-Moritz-Arndt-University of Greifswald, Department of Neurology Recruiting
Greifswald, Germany, 17489
Contact: Christoph Kessler, MD    +49 3834 ext 866800   
Principal Investigator: Christoph Kessler, MD         
Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology Recruiting
Hamburg, Germany, 20246
Contact: Alexander Münchau, MD    +49 40 - 7410 ext 50134   
Sub-Investigator: Simone Zittel, MD         
Medizinische Hochschule Hannover, Bewegungsstörungsambulanz Recruiting
Hannover, Germany, 30625
Contact: Gabriele Dierks    +49 511 ext 5323670   
Principal Investigator: Dirk Dressler, MD         
Alexianer Krefeld GmbH, Krankenhaus Maria Hilf Recruiting
Krefeld, Germany, 47805
Contact: Hans-Jürgen von Giesen, MD    +49 2151 334 ext 7156   
Principal Investigator: Hans-Jürgen von Giesen, MD         
Gertrudis-Kliniken im Parkinson-Zentrum Recruiting
Leun-Biskirchen, Germany, 35638
Contact: Ilona Csoti, MD    +49 6473-3050   
Principal Investigator: Ilona Csoti, MD         
Neurologischische Arztpraxis Recruiting
Rostock, Germany, 18057
Contact: Liane Hauk-Westerhoff, MD    +49 381 37555 ext 224   
Principal Investigator: Liane Hauk-Westerhoff, MD         
Universitätsklinikum Rostock, Klinik für Neurologie Recruiting
Rostock, Germany, 18147
Contact: Matthias Wittstock, MD    +49 381 494 ext 4791   
Sub-Investigator: Matthias Wittstock, MD         
Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen Recruiting
Sindelfingen, Germany, 71085
Contact: Gay Arnold    +49 7031 ext 982362   
Principal Investigator: Gay Arnold, MD         
HANSE-Klinikum, Department of Neurology Recruiting
Stralsund, Germany, 18410
Contact: Jörn Peter Sieb, MD    +49 3831 352 ext 550   
Sub-Investigator: Wael Marouf, MD         
Sub-Investigator: Thomas Bocola, MD         
University of Ulm, Department of Neurology Recruiting
Ulm, Germany, 89081
Contact: Jan Kassubek, MD    +49 731 177 ext 5210   
Principal Investigator: Jan Kassubek, MD         
Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie Recruiting
Wiesbaden, Germany, 65191
Contact: Wolfgang Jost, MD    +49 611 577 ext 652   
Sub-Investigator: Natalie Hackert-Lust, MD         
Chulalongkorn University Hospital Recruiting
Bangkok, Thailand, 10330
Contact: Bhidayasiri Roongroj, MD    +662 256 ext 4627   
Principal Investigator: Bhidayasiri Roongroj, MD         
Sponsors and Collaborators
University of Rostock
Principal Investigator: Arndt Rolfs, MD University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.

Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock Identifier: NCT01272687     History of Changes
Other Study ID Numbers: PD02/2011
First Posted: January 10, 2011    Key Record Dates
Last Update Posted: May 21, 2018
Last Verified: May 2018

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Parkinson Disease
Parkinsonian Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurodegenerative Diseases

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases