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

This study is currently recruiting participants.
Verified May 2017 by Prof. Dr. Arndt Rolfs, University of Rostock
Sponsor:
ClinicalTrials.gov Identifier:
NCT01272687
First Posted: January 10, 2011
Last Update Posted: May 5, 2017
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.
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock
January 7, 2011
January 10, 2011
May 5, 2017
January 2011
December 2019   (Final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT01272687 on ClinicalTrials.gov Archive Site
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Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation
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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
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Probability Sample
adult patients with a confirmed diagnosis of Parkinson's disease
  • Parkinson Disease
  • Idiopathic Parkinson Disease
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Observation
all adult Patients at 18 years with a confirmed diagnosis of Parkinson's disease

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1500
December 2019
December 2019   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
18 Years and older   (Adult, Senior)
No
Contact: Arndt Rolfs, MD 49-381-494 ext 9540 arndt.rolfs@med.uni-rostock.de
Contact: Matthias Wittstock, MD 49-381-494 ext 4791 matthias.wittstock@med.uni-rostock.de
Germany,   Thailand
 
 
NCT01272687
PD02/2011
Yes
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Prof. Dr. Arndt Rolfs, University of Rostock
University of Rostock
Not Provided
Principal Investigator: Arndt Rolfs, MD University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
University of Rostock
May 2017