Idiopathic Parkinson's Disease (PD)ONCOGBANCT06814431
Study on the Incidence of Malignant Neoplasms in Patients With Parkinson's Disease and Heterozygous Mutation of the GBA Gene
An observational study of Idiopathic Parkinson's Disease (PD), run by Azienda USL Reggio Emilia - IRCCS at 4 sites in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Idiopathic Parkinson's Disease (PD)
- How many people
- 3,000 participants
- Where
- 4 sitesItaly
- Study dates
- 23 Nov 2023to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: Participants will be selected from a network of Italian neurology centers with extensive experience in studying GBA-associated PD, in collaboration with local cancer registries. The study will include approximately 3,000 consecutive PD patients, subdivided into 500 patients with GBA mutations and 2,500 patients with idiopathic PD. These participants will be compared with data from cancer registries to investigate potential associations between GBA mutations and malignancies. The population is drawn from specialized movement disorder centers and represents a clinically well-characterized cohort with access to standardized diagnostic and follow-up procedures.
Who may be able to join
- >18 years
- Diagnosis of Parkinson's Disease through the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria for Parkinson's Disease.
Who cannot join
- Uncertain diagnosis
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy4 sites, 4 recruiting
- Recruiting
Ospedale A. Perrino
Brindisi
Francesca Spagnolo, MD, francesca.spagnolo@asl.brindisi.it
Francesca Spagnolo, MD
- Recruiting
IRCCS Istituto Neurologico Carlo Besta
Milan
Roberto Cilia, MD, roberto.cilia@istituto-besta.it
Roberto Cilia, MD
- Recruiting
Azienda USL IRCCS di Reggio Emilia
Reggio Emilia, 42123
Giulia Toschi, Clinical Research Coordinator, +390522295565
Giulia Di Rauso, MD
- Recruiting
Ospedale Santa Chiara di Trento
Trento
Maria Chiara Malaguti, MD, mariachiara.malaguti@apss.tn.it
Maria Chiara Malaguti, MD
About this study
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.
Read more
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.
Read the detailed description
The study will involve a network composed by different Italian Movement Disorders Centres and the corresponding local cancer registries, responsible for the active collection of cancer cases. Data will be collected from approximately 3000 consecutive Parkinson's disease (PD) patients, including about 500 patients carrying GBA1 mutations and 2500 idiopathic PD. Data about the presence of malignancies will be extracted from the Local Cancer Registries for each patient.
- Conditions
- Idiopathic Parkinson's Disease (PD)
- Keywords
- Parkinson's Disease, Neoplasms, GBA1, Genetic Parkinson's Disease
- Medical subject headings
- Parkinson Disease, Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. | |
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of Increased Incidence of Malignant Neoplasms in Parkinson's Disease Patients with GBA1 Mutation Compared to the General Population
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.
Measured: From birth to a maximum of 36 months after enrollment
Secondary outcomes (3)
Evaluation of Increased Incidence of Malignant Neoplasms in Parkinson's Disease Patients with GBA1 Mutation Compared to Non-Genetic Parkinson's Disease Patients
The incidence of malignant neoplasms in Parkinson's disease (PD) patients carrying the GBA1 mutation (GBA1-PD) will be compared to that of idiopathic PD patients using a Chi-Square test to evaluate statistical significance
Measured: From birth to a maximum of 36 months after enrollment
Evaluation of Increased Incidence of Malignant Neoplasms in Idiopathic Parkinson's Disease Patients Compared to the General Population
The incidence of neoplasms in patients with idiopathic Parkinson's disease (PD) will be compared to that of the general population.
Measured: From birth to a maximum of 36 months after enrollment
Description of Oncological Condition Incidence by Sex, Age, Center, and Tumor Site, with Specific Focus on Hematologic Versus Solid Tumors
Logistic regression analysis will be conducted to evaluate the association between neoplasms and PD subgroups (GBA1 and idiopathic PD), accounting for clinical and demographic covariates.
Measured: From birth to a maximum of 36 months after enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Feb 2025
- Study start23 Nov 2023
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Idiopathic Parkinson's Disease (PD)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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
- Retrospective
- Enrolment
- 3,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Azienda USL Reggio Emilia - IRCCS
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06814431
- Sponsor's protocol ID
- 133/2023/OSS/AUSLRE
- Acronym
- ONCOGBA
- Status last verified
- Jul 2026
- First submitted
- 29 Jan 2025
- Last updated
- 24 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 28218669Mistry 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.
PubMed 23510066
Study at a glance
From the registry record, last updated by the sponsor on 24 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study on the Incidence of Malignant Neoplasms in Patients With Parkinson's Disease and Heterozygous Mutation of the GBA Gene
- ClinicalTrials.gov ID
- NCT06814431
- Acronym / sponsor ID
- ONCOGBA / 133/2023/OSS/AUSLRE
- Conditions
- Idiopathic Parkinson's Disease (PD)
- Keywords
- Parkinson's Disease, Neoplasms, GBA1, Genetic Parkinson's Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- Azienda USL Reggio Emilia - IRCCSOther government
- Study start
- 23 Nov 2023 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 7 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The study will involve a network composed by different Italian Movement Disorders Centres and the corresponding local cancer registries, responsible for the active collection of cancer cases. Data will be collected from approximately 3000 consecutive Parkinson's disease (PD) patients, including about 500 patients carrying GBA1 mutations and 2500 idiopathic PD. Data about the presence of malignancies will be extracted from the Local Cancer Registries for each patient.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
| 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants will be selected from a network of Italian neurology centers with extensive experience in studying GBA-associated PD, in collaboration with local cancer registries. The study will include approximately 3,000 consecutive PD patients, subdivided into 500 patients with GBA mutations and 2,500 patients with idiopathic PD. These participants will be compared with data from cancer registries to investigate potential associations between GBA mutations and malignancies. The population is drawn from specialized movement disorder centers and represents a clinically well-characterized cohort with access to standardized diagnostic and follow-up procedures.
Key inclusion criteria (2 listed)
- >18 years
- Diagnosis of Parkinson's Disease through the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria for Parkinson's Disease.
Key exclusion criteria (1 listed)
- Uncertain diagnosis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Evaluation of Increased Incidence of Malignant Neoplasms in Parkinson's Disease Patients with GBA1 Mutation Compared to the General Population
Time frame: From birth to a maximum of 36 months after enrollment
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.
3 secondary outcomes
Evaluation of Increased Incidence of Malignant Neoplasms in Parkinson's Disease Patients with GBA1 Mutation Compared to Non-Genetic Parkinson's Disease Patients
Time frame: From birth to a maximum of 36 months after enrollment
Evaluation of Increased Incidence of Malignant Neoplasms in Idiopathic Parkinson's Disease Patients Compared to the General Population
Time frame: From birth to a maximum of 36 months after enrollment
Description of Oncological Condition Incidence by Sex, Age, Center, and Tumor Site, with Specific Focus on Hematologic Versus Solid Tumors
Time frame: From birth to a maximum of 36 months after enrollment
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jul 2026.
- Background: PubMed 28218669Stirnemann 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.
- Background: PubMed 23510066Mistry 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Idiopathic Parkinson's Disease (PD), run by Azienda USL Reggio Emilia - IRCCS at 4 sites in Italy.
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 2 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 24 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in Italy. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Giulia Di Rauso, MD (+39 0522 296494, giulia.dirauso@ausl.re.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of Increased Incidence of Malignant Neoplasms in Parkinson's Disease Patients with GBA1 Mutation Compared to the General Population (time frame: From birth to a maximum of 36 months after enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06814431, which also lists 2 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 24 Jul 2026.