A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou...
https://pubmed.ncbi.nlm.nih.gov/28218669Actively Recruiting
Led by Azienda USL Reggio Emilia - IRCCS · Updated on 2025-02-11
3000
Participants Needed
4
Research Sites
39 weeks
Total Duration
This research investigates the occurrence of malignant tumors in people with Parkinson's disease (PD) who carry a specific gene change called a heterozygous pathogenic variant in the GBA1 gene. The study compares these individuals with those who have idiopathic PD (PD without these gene changes) and with the general population. The study aims to understand if there is a higher risk of cancer in PD patients with the GBA1 mutation and to explore patterns by sex, age, and tumor type. The study collects data from about 3000 PD patients across multiple movement disorder centers in Italy, including around 500 with the GBA1 mutation and 2500 with idiopathic PD. Information about cancer cases for these patients is gathered from local cancer registries. Participants are grouped into those with PD and the GBA1 mutation and those with idiopathic PD, with diagnoses based on established criteria. Participants' medical histories related to cancer are reviewed using cancer registry data. The main outcome is to compare the rate of malignant tumors in PD patients with GBA1 mutations to the general population over a period from birth up to 36 months after joining the study. Secondary analyses include comparisons between the different PD groups and detailed descriptions of cancer types by patient characteristics. The study helps understand cancer risks in PD and may guide future patient care.
CONDITIONS
Study on the Incidence of Malignant Neoplasms in Patients with Parkinson's Disease and Heterozygous Mutation of the GBA Gene
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Complete this quick 3-step screening to check your eligibility
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 36 months after enrollment
Participants are observed for the occurrence of malignant neoplasms through data collected from local cancer registries and movement disorder centers.
Data collection from registries without additional visits
Total: 4 locations
1
Ospedale A. Perrino
Brindisi, Italy
Actively Recruiting
2
IRCCS Istituto Neurologico Carlo Besta
Milan, Italy
Actively Recruiting
3
Azienda USL IRCCS di Reggio Emilia
Reggio Emilia, Italy, 42123
Actively Recruiting
4
Ospedale Santa Chiara di Trento
Trento, Italy
Actively Recruiting
F
Franco Valzania, MD
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou...
https://pubmed.ncbi.nlm.nih.gov/28218669Pramod K Mistry, Tamar Taddei, Stephan vom Dahl...
https://pubmed.ncbi.nlm.nih.gov/23510066