Study on the Incidence of Malignant Neoplasms in Patients with Parkinson's Disease and Heterozygous Mutation of the GBA Gene
NCT ID: NCT06814431
Last Updated: 2025-02-11
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
3000 participants
OBSERVATIONAL
2023-11-23
2026-09-30
Brief Summary
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The rationale for the study lies in the growing evidence indicating an increased risk of malignant neoplasms in patients affected by Gaucher disease.
The primary objective is to assess whether PD patients with GBA1 mutations have a higher incidence of malignant neoplasms compared to the general population. Secondary objectives include comparing the incidence of malignant neoplasms between GBA1-PD and idiopathic PD patients, as well as between idiopathic PD patients and the general population. Additionally, the study aims to characterize oncological conditions by sex, age, center, and tumor site, with specific attention to distinguishing hematologic tumors from solid tumors.
By identifying potential associations between GBA1 mutations and malignancies in PD, the findings could guide more comprehensive patient management, including screening for malignant neoplasms alongside Parkinson's disease care.
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Detailed Description
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Conditions
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Study Design
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COHORT
RETROSPECTIVE
Study Groups
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GBA-PD Cohort
Parkinson's disease (PD) patients diagnosed based on the "United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria". Patients in this group must have a documented heterozygous pathogenic variant in the GBA1 gene.
No interventions assigned to this group
Idiopathic PD Cohort
This cohort includes patients diagnosed with Parkinson's disease (PD) based on the "United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria". Patients in this group do not have any documented heterozygous pathogenic variants in the GBA1 or LRRK2 genes.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Diagnosis of Parkinson's Disease through the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria for Parkinson's Disease.
Exclusion Criteria
18 Years
ALL
No
Sponsors
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Azienda USL Reggio Emilia - IRCCS
OTHER_GOV
Responsible Party
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Locations
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Ospedale A. Perrino
Brindisi, , Italy
IRCCS Istituto Neurologico Carlo Besta
Milan, , Italy
Azienda USL IRCCS di Reggio Emilia
Reggio Emilia, , Italy
Ospedale Santa Chiara di Trento
Trento, , Italy
Countries
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Central Contacts
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Facility Contacts
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Francesca Spagnolo, MD
Role: backup
Roberto Cilia, MD
Role: backup
Giulia Toschi, Clinical Research Coordinator
Role: primary
Franco Valzania, MD
Role: backup
Maria Chiara Malaguti, MD
Role: backup
References
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Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. 2017 Feb 17;18(2):441. doi: 10.3390/ijms18020441.
Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. Crit Rev Oncog. 2013;18(3):235-46. doi: 10.1615/critrevoncog.2013006145.
Other Identifiers
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133/2023/OSS/AUSLRE
Identifier Type: -
Identifier Source: org_study_id
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