Clinical trial · Observational
Study on the Incidence of Malignant Neoplasms in Patients With Parkinson's Disease and Heterozygous Mutation of the GBA Gene
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This multicenter retrospective observational study investigates the incidence of malignant neoplasms in Parkinson's disease (PD) patients carrying heterozygous pathogenic variants in the GBA1 gene. The study compares these patients to individuals with idiopathic PD and to the general population within a large national cohort. 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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Idiopathic Parkinson's Disease (PD) | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (2)
- label
- GBA-PD Cohort
- description
- 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.
- label
- Idiopathic PD Cohort
- description
- 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.
Primary outcomes (1)
- measure
- Evaluation of Increased Incidence of Malignant Neoplasms in Parkinson's Disease Patients with GBA1 Mutation Compared to the General Population
- timeFrame
- From birth to a maximum of 36 months after enrollment
- description
- The incidence of malignant neoplasms in Parkinson's disease (PD) patients carrying the GBA1 mutation (GBA1-PD) will be calculated and compared to that of the general population to assess any potential increase in risk.
Secondary outcomes (3)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * \>18 years * Diagnosis of Parkinson's Disease through the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria for Parkinson's Disease. Exclusion Criteria: * Uncertain diagnosis
References
Publications (2)
- BACKGROUNDStirnemann 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. PMID 28218669
- BACKGROUNDMistry 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. PMID 23510066