NCT01272687

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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,500

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2011

Longer than P75 for all trials

Geographic Reach
2 countries

15 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2011

Completed
6 days until next milestone

First Submitted

Initial submission to the registry

January 7, 2011

Completed
3 days until next milestone

First Posted

Study publicly available on registry

January 10, 2011

Completed
5.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2016

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2017

Completed
Last Updated

April 9, 2021

Status Verified

April 1, 2020

Enrollment Period

5.4 years

First QC Date

January 7, 2011

Last Update Submit

April 8, 2021

Conditions

Parkinson DiseaseIdiopathic Parkinson Disease

Keywords

Parkinson DiseaseParkinsonian DisordersBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurodegenerative Diseases

Study Arms (1)

Observation

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

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

adult patients with a confirmed diagnosis of Parkinson's disease

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (15)

Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin

Bad Neustadt an der Saale, 97616, Germany

Location

Universitätsklinikum Dresden Klinik für Neurologie

Dresden, 01307, Germany

Location

University of Giessen, Department of Neurology

Giessen, 35385, Germany

Location

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

Greifswald, 17489, Germany

Location

Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology

Hamburg, 20246, Germany

Location

Medizinische Hochschule Hannover, Bewegungsstörungsambulanz

Hanover, 30625, Germany

Location

Alexianer Krefeld GmbH, Krankenhaus Maria Hilf

Krefeld, 47805, Germany

Location

Gertrudis-Kliniken im Parkinson-Zentrum

Leun, 35638, Germany

Location

Neurologischische Arztpraxis

Rostock, 18057, Germany

Location

Universitätsklinikum Rostock, Klinik für Neurologie

Rostock, 18147, Germany

Location

Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen

Sindelfingen, 71085, Germany

Location

HANSE-Klinikum, Department of Neurology

Stralsund, 18410, Germany

Location

University of Ulm, Department of Neurology

Ulm, 89081, Germany

Location

Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie

Wiesbaden, 65191, Germany

Location

Chulalongkorn University Hospital

Bangkok, 10330, Thailand

Location

Related Publications (13)

  • Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J. 2008 Dec;275(23):5767-73. doi: 10.1111/j.1742-4658.2008.06709.x.

    PMID: 19021754BACKGROUND

  • Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology. 2007 Sep 18;69(12):1270-7. doi: 10.1212/01.wnl.0000276989.17578.02.

    PMID: 17875915BACKGROUND

  • Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology. 2008 Jun 10;70(24):2277-83. doi: 10.1212/01.wnl.0000304039.11891.29. Epub 2008 Apr 23.

    PMID: 18434642BACKGROUND

  • Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet. 2004 Dec;41(12):937-40. doi: 10.1136/jmg.2004.024455.

    PMID: 15591280BACKGROUND

  • Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett. 2009 Mar 13;452(2):87-9. doi: 10.1016/j.neulet.2009.01.029. Epub 2009 Jan 15.

    PMID: 19383421BACKGROUND

  • Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998 Apr 9;392(6676):605-8. doi: 10.1038/33416.

    PMID: 9560156BACKGROUND

  • Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009 May;66(5):571-6. doi: 10.1001/archneurol.2009.72.

    PMID: 19433656BACKGROUND

  • Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM. 1996 Sep;89(9):691-4. doi: 10.1093/qjmed/89.9.691.

    PMID: 8917744BACKGROUND

  • Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13.

    PMID: 19286695BACKGROUND

  • Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology. 2009 Jan 27;72(4):310-6. doi: 10.1212/01.wnl.0000327823.81237.d1. Epub 2008 Nov 5.

    PMID: 18987351BACKGROUND

  • Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. doi: 10.1016/j.ymgme.2004.08.015.

    PMID: 15464415BACKGROUND

  • 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, Durr 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.

    PMID: 19846850BACKGROUND

  • Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab. 2003 Jun;79(2):104-9. doi: 10.1016/s1096-7192(03)00071-4.

    PMID: 12809640BACKGROUND

MeSH Terms

Conditions

Parkinson DiseaseParkinsonian DisordersBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurodegenerative Diseases

Condition Hierarchy (Ancestors)

Basal Ganglia DiseasesMovement DisordersSynucleinopathies

Study Officials

  • Arndt Rolfs, MD

    University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 7, 2011

First Posted

January 10, 2011

Study Start

January 1, 2011

Primary Completion

June 1, 2016

Study Completion

June 1, 2017

Last Updated

April 9, 2021

Record last verified: 2020-04

Locations

DE(14)TH(1)