Parkinson DiseaseNCT04620980
Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease
An observational study of Parkinson Disease, run by Neuromed IRCCS at 1 site in Italy.
Trial summary
The project intends to assess the polygenic burden of rare disruptive mutations in Parkinson's disease (PD) and how they influence the phenotype/pathological heterogeneity of disease. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Parkinson Disease
- What is being tested?
- targeted resequencing
- How many people
- 600 participants
- Where
- 1 siteItaly
- Study dates
- 15 Jun 2021to 17 May 2024
- How long will I take part?
- 3 Years
- 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
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study includes 300 PD patients and 300 age/gender-matched controls. All PD patients will be diagnosed at the IRCCS Neuromed and followed-up (at least for 3 years) for disease progression.
Who may be able to join
- Presence of at least two out the following cardinal signs: resting tremor, cogwheel rigidity, bradykinesia, asymmetrical onset of symptoms and symptomatic response to L-dopa (levodopa).
Who cannot join
- Previous thalamotomy on the implanted sides;
- Significant brain atrophy or structural damage seen on CT or MRI;
- Marked cognitive dysfunction;
- Active psychiatric symptoms;
- Concurrent neurological disorders;
- Other uncontrolled medical disorders.
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Neuromed
Pozzilli, 86077
Teresa Esposito, PhD, 0865915249, teresa.esposito@igb.cnr.it
About this study
Official title: Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease: a Novel Diagnostic Test to Predict Parkinson's Disease Risk
The project intends to assess the polygenic burden of rare disruptive mutations in Parkinson's disease (PD) and how they influence the phenotype/pathological heterogeneity of disease.
Read the detailed description
The investigators intend to extend the genetic analysis to a cohort of 300 PD cases and 300 healthy subjects (wife / husband of the patients) that will be recruited at Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Neuromed.
After signed informed consent patients will be assessed for disease progression (Hoehn and Yahr stadium, Movement Disorder Society-Unified Parkinson's Disease Rating Scale part III (MDS-UPDRS), Montreal Cognitive Assessment (MoCA) test, no motor symptoms, therapy and levodopa induced Dyskinesia (LID) occurrence). Each patient and control will be subjected to peripheral blood sampling for the isolation of DNA, RNA, plasma and serum. The investigators will use a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID).
Bioinformatics analysis will allow to catalog in a database the identified variants/mutations according to their frequency and characteristics.
The investigators will specifically assess if the inheritance of multiple rare deleterious variants in Parkinson's Disease genes is predictive of disease risk.
The presence of one or more variants will be tested for association with phenotypic manifestation of Parkinson's Disease (motor, non-motor, and cognitive signs, as well as age at onset, LID and neuroimaging changes) to assess the variant burden effect on progression, and prognosis of the disease.
- Conditions
- Parkinson Disease
- Being tested
- targeted resequencing
- Medical subject headings
- Parkinson Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
targeted resequencingDiagnostic test
The investigators will use a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID).
| Study group | Role | What they receive |
|---|---|---|
| Cases | Participants will be assessed for disease progression: Hoehn and Yahr stadium, MDS-UPDRS part III, MoCA test, no motor symptoms, therapy and LID occurrence.
Participants will be subjected to peripheral blood sampling for the purification of DNA, RNA, plasma and serum.
DNA of each participant will be analysed by targeted resequencing of a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID). Receives: Diagnostic Test: targeted resequencing | |
| controls | Participants will be assessed for the presence of disease. Participants will be subjected to peripheral blood sampling for the purification of DNA, RNA, plasma and serum.
DNA of each participant will be analysed by targeted resequencing of a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID). Receives: Diagnostic Test: targeted resequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
clinical evaluation of PD patients and controls
disease progression (Hoehn and Yahr stadium, MDS-UPDRS part III, MoCA test, no motor symptoms, therapy and LID occurrence
Measured: three years
identification of variants/mutations
assessing if the inheritance of multiple rare deleterious variants in PD genes is predictive of PD risk.
Measured: two years
association with phenotypic manifestation of PD
The presence of one or more variants will be tested for association with phenotypic manifestation of PD (motor, non-motor, and cognitive signs, as well as age at onset, LID and neuroimaging changes) to assess the variant burden effect on progression, and prognosis of the disease.
Measured: three years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Nov 2020
- Study start15 Jun 2021
- Primary completion30 Sep 2023 (estimated)
- Study completion17 May 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Parkinson DiseaseStudies 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 600 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Neuromed IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Teresa Esposito, Neuromed IRCCS
- Investigators
- Teresa Esposito, PhD, Principal investigator, Head of CNR Unit
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04620980
- Sponsor's protocol ID
- RF-2019-12370224
- Status last verified
- Sep 2022
- First submitted
- 3 Nov 2020
- Last updated
- 28 Sep 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: genetics data
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease: a Novel Diagnostic Test to Predict Parkinson's Disease Risk
- ClinicalTrials.gov ID
- NCT04620980
- Acronym / sponsor ID
- RF-2019-12370224
- Conditions
- Parkinson Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Neuromed IRCCSUniversity, hospital or other
- Study start
- 15 Jun 2021 (actual)
- Primary completion
- 30 Sep 2023 (estimated)
- Study completion
- 17 May 2024 (estimated)
- First posted
- 9 Nov 2020 (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.
The project intends to assess the polygenic burden of rare disruptive mutations in Parkinson's disease (PD) and how they influence the phenotype/pathological heterogeneity of disease.
Detailed description
The investigators intend to extend the genetic analysis to a cohort of 300 PD cases and 300 healthy subjects (wife / husband of the patients) that will be recruited at Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Neuromed.
After signed informed consent patients will be assessed for disease progression (Hoehn and Yahr stadium, Movement Disorder Society-Unified Parkinson's Disease Rating Scale part III (MDS-UPDRS), Montreal Cognitive Assessment (MoCA) test, no motor symptoms, therapy and levodopa induced Dyskinesia (LID) occurrence). Each patient and control will be subjected to peripheral blood sampling for the isolation of DNA, RNA, plasma and serum. The investigators will use a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID).
Bioinformatics analysis will allow to catalog in a database the identified variants/mutations according to their frequency and characteristics.
The investigators will specifically assess if the inheritance of multiple rare deleterious variants in Parkinson's Disease genes is predictive of disease risk.
The presence of one or more variants will be tested for association with phenotypic manifestation of Parkinson's Disease (motor, non-motor, and cognitive signs, as well as age at onset, LID and neuroimaging changes) to assess the variant burden effect on progression, and prognosis of the disease.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Target follow-up
- 3 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cases | – | Diagnostic Test: targeted resequencingParticipants will be assessed for disease progression: Hoehn and Yahr stadium, MDS-UPDRS part III, MoCA test, no motor symptoms, therapy and LID occurrence. Participants will be subjected to peripheral blood sampling for the purification of DNA, RNA, plasma and serum. DNA of each participant will be analysed by targeted resequencing of a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID). |
| controls | – | Diagnostic Test: targeted resequencingParticipants will be assessed for the presence of disease. Participants will be subjected to peripheral blood sampling for the purification of DNA, RNA, plasma and serum. DNA of each participant will be analysed by targeted resequencing of a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The study includes 300 PD patients and 300 age/gender-matched controls. All PD patients will be diagnosed at the IRCCS Neuromed and followed-up (at least for 3 years) for disease progression.
Key inclusion criteria (1 listed)
- Presence of at least two out the following cardinal signs: resting tremor, cogwheel rigidity, bradykinesia, asymmetrical onset of symptoms and symptomatic response to L-dopa (levodopa).
Key exclusion criteria (6 listed)
- Previous thalamotomy on the implanted sides;
- Significant brain atrophy or structural damage seen on CT or MRI;
- Marked cognitive dysfunction;
- Active psychiatric symptoms;
- Concurrent neurological disorders;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| targeted resequencingThe investigators will use a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID). | Diagnostic test | Cases, controls |
Primary outcome
clinical evaluation of PD patients and controls
Time frame: three years
disease progression (Hoehn and Yahr stadium, MDS-UPDRS part III, MoCA test, no motor symptoms, therapy and LID occurrence
identification of variants/mutations
Time frame: two years
assessing if the inheritance of multiple rare deleterious variants in PD genes is predictive of PD risk.
association with phenotypic manifestation of PD
Time frame: three years
The presence of one or more variants will be tested for association with phenotypic manifestation of PD (motor, non-motor, and cognitive signs, as well as age at onset, LID and neuroimaging changes) to assess the variant burden effect on progression, and prognosis of the disease.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Sep 2022.
- Individual participant dataSharing planned: Undecided. genetics data
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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. This study is not recruiting at the moment.
Teresa Esposito, PhD principal investigator
Head of CNR Unit
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Parkinson Disease, run by Neuromed IRCCS at 1 site 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 1 inclusion and 6 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: status not confirmed, as of the sponsor's last update on 28 Sep 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Teresa Esposito, PhD (+39 0865915249, teresa.esposito@igb.cnr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
clinical evaluation of PD patients and controls (time frame: three years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 28 Sep 2022.