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Parkinson DiseasePadGauNCT01272687

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

An observational study of Parkinson Disease and Idiopathic Parkinson Disease, run by CENTOGENE GmbH Rostock at 15 sites in 2 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 years and older
How many people
1,500 participants
Where
15 sitesin 2 countries
Study dates
Jan 2011to Jun 2017
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Study population: adult patients with a confirmed diagnosis of Parkinson's disease

Who may be able to join

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

Who cannot join

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

Trial locations and contacts

15 sites in 2 countries.

15 sites in 2 countries

Germany14 sites

  • Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin

    Bad Neustadt an der Saale, 97616

  • Universitätsklinikum Dresden Klinik für Neurologie

    Dresden, 01307

  • University of Giessen, Department of Neurology

    Giessen, 35385

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

    Greifswald, 17489

  • Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology

    Hamburg, 20246

  • Medizinische Hochschule Hannover, Bewegungsstörungsambulanz

    Hanover, 30625

  • Alexianer Krefeld GmbH, Krankenhaus Maria Hilf

    Krefeld, 47805

  • Gertrudis-Kliniken im Parkinson-Zentrum

    Leun, 35638

  • Neurologischische Arztpraxis

    Rostock, 18057

  • Universitätsklinikum Rostock, Klinik für Neurologie

    Rostock, 18147

  • Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen

    Sindelfingen, 71085

  • HANSE-Klinikum, Department of Neurology

    Stralsund, 18410

  • University of Ulm, Department of Neurology

    Ulm, 89081

  • Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie

    Wiesbaden, 65191

Other trials in Germany

Thailand1 site

  • Chulalongkorn University Hospital

    Bangkok, 10330

Other trials in Thailand

About this study

Official title: 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.

Read the 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.

Keywords
Parkinson Disease, Parkinsonian Disorders, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Neurodegenerative Diseases
Medical subject headings
Parkinson Disease, Parkinsonian Disorders, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Neurodegenerative Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT01272687
Study groupRoleWhat they receive
ObservationAdults (>18 years) with a confirmed diagnosis of Parkinson's disease

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted10 Jan 2011 (estimated)
  2. Study startJan 2011
  3. Primary completionJun 2016
  4. Study completionJun 2017

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
1,500 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01272687
Sponsor's protocol ID
PD02/2011
Acronym
PadGau
Status last verified
Apr 2020
First submitted
7 Jan 2011
Last updated
9 Apr 2021
Results posted
No
Data monitoring committee
Yes

Publications

  • 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.

    PubMed 19021754

  • 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.

    PubMed 17875915

  • 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.

    PubMed 18434642

  • 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.

    PubMed 15591280

  • 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.

    PubMed 19383421

  • 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.

    PubMed 9560156

  • 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.

    PubMed 19433656

  • 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.

    PubMed 8917744

  • 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.

    PubMed 19286695

  • 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.

    PubMed 18987351

  • 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.

    PubMed 15464415

  • 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.

    PubMed 19846850

  • 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.

    PubMed 12809640

Questions about this trial

What is this clinical trial studying?

An observational study of Parkinson Disease and Idiopathic Parkinson Disease, run by CENTOGENE GmbH Rostock at 15 sites in 2 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 9 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 15 sites in Germany, Thailand. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01272687, which also lists 13 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Apr 2021.

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