Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease

NCT04620980 | Unknown

• 1 other identifier: RF-2019-12370224
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Parkinson Disease

Outcome Measures

Primary Outcomes (3)

• 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

  three years

• identification of variants/mutations

  assessing if the inheritance of multiple rare deleterious variants in PD genes is predictive of PD risk.

  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.

  three years

Study Arms (2)

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).

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).

Diagnostic Test: targeted resequencing

Interventions

targeted resequencing DIAGNOSTIC_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).

Cases; controls

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

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.

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• Neuromed IRCCS: lead

Study Sites (1)

IRCCS Neuromed

Pozzilli, 86077, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for purification of DNA, RNA, plasma and serum

MeSH Terms

Conditions

Parkinson Disease

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Study Officials

• Teresa Esposito, PhD

  Head of CNR Unit

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Teresa Esposito, PhD

CONTACT

+39 0865915249; teresa.esposito@igb.cnr.it

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of CNR Unit

Study Record Dates

• First Submitted: November 3, 2020
• First Posted: November 9, 2020
• Study Start: June 15, 2021
• Primary Completion: September 30, 2023
• Study Completion: May 17, 2024
• Last Updated: September 28, 2022

Record last verified: 2022-09

Locations

IT (1)