Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease
NCT04620980 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 600
Last updated 2022-09-28
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
Interventions
- DIAGNOSTIC_TEST
-
targeted resequencing
The investigators will use a disease-specific gene panel including about 100 genes related to Parkinson's Disease, autophagy and levodopa induced Dyskinesia (LID).
Sponsors & Collaborators
-
Neuromed IRCCS
lead OTHER
Principal Investigators
-
Teresa Esposito, PhD · Head of CNR Unit
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2021-06-15
- Primary Completion
- 2023-09-30
- Completion
- 2024-05-17
Countries
- Italy
Study Locations
More Related Trials
-
PROGENI (Parkinson's Research: The Organized Genetics Initiative) Family Study of LRRK2 (Leucine-rich Repeat Kinase 2)
NCT01536821 ·Status: COMPLETED
-
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851 ·Status: RECRUITING
-
Genetic Characterization of Movement Disorders and Dementias
NCT02014246 ·Status: RECRUITING
-
Genetic Architecture of Chronic Inflammatory Demyelinating Polyradiculoneuropathy
NCT06325878 ·Status: RECRUITING ·Phase: NA
-
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
NCT02340871 ·Status: UNKNOWN
-
Parkinson's Foundation PD GENEration Genetic Registry
NCT04994015 ·Status: RECRUITING
-
Neurogenetics Patient Registry
NCT02995538 ·Status: RECRUITING
-
Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
NCT02588638 ·Status: UNKNOWN
-
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
NCT04399694 ·Status: COMPLETED
-
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
NCT03829176 ·Status: COMPLETED ·Phase: NA
-
Action Medical Research
NCT02227381 ·Status: COMPLETED
-
Longitudinal Study of Neurogenetic Disorders
NCT03492060 ·Status: RECRUITING
-
Genetics of Primary Ciliary Dyskinesia
NCT02389049 ·Status: COMPLETED
-
Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus
NCT00339885 ·Status: COMPLETED
-
Longitudinal Study of Neurodegenerative Disorders
NCT03333200 ·Status: RECRUITING
-
Study of Clinical and Molecular Manifestations of Genetic Disorders
NCT00001466 ·Status: COMPLETED
-
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
NCT06595940 ·Status: RECRUITING
-
Targeted Next Generation Sequencing and Intellectual Disability
NCT02889068 ·Status: COMPLETED
-
Phenotype/Genotype Correlations in Movement Disorders
NCT00018889 ·Status: RECRUITING
-
Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel
NCT04485598 ·Status: COMPLETED
-
Genetic Profile In Patients With Ruptured and Unruptured Intracranial Aneurysms
NCT07233915 ·Status: RECRUITING
-
Clinical Integration of Genetic Risk Assessment in Family Medicine
NCT00339794 ·Status: COMPLETED
-
Various Type of Genetic Events in Patients With Intellectual Disability
NCT02881333 ·Status: UNKNOWN
-
Genetics of Familial and Sporadic ALS
NCT00821132 ·Status: COMPLETED
-
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
NCT06775561 ·Status: RECRUITING