Status:
NOT_YET_RECRUITING
Combined Genome and RNA Sequencing for Genetic Diagnosis of Parkinsonism
Lead Sponsor:
University Hospital, Strasbourg, France
Conditions:
Parkinson's Disease
Eligibility:
All Genders
18+ years
Phase:
NA
Brief Summary
Despite the increasing availability and advances in the analysis of high-throughput DNA sequencing, the majority of patients with early-onset or familial parkinsonism remain without a molecular diagno...
Detailed Description
Investigators selected 14 patients with early-onset parkinsonism for whom no variant of certain pathogenicity had been identified after exome sequencing. Patients and their relatives will have a bloo...
Eligibility Criteria
Inclusion
- Extrapyramidal syndrome beginning before or at the age of 40 or associated with a family history:
- Dopaminergic denervation proven by ioflupane brain scintigraphy (DaTscan®)
- DNAs from both asymptomatic parents available in biobank
- Subject affiliated to a social protection health insurance scheme or beneficiary or beneficiary
- Subject able to understand the objectives and risks related to the research and to give dated and signed informed consent
Exclusion
- \- Contraindication for performing a superficial skin biopsy provided for by the protocol
- Molecular cause of parkinsonism previously identified
- Absence of prior genetic exploration by high-throughput DNA sequencing
- Patient with late-onset sporadic parkinsonian syndrome (\> 40 years) without family history
- Patient with Parkinson's syndrome associated with a specific diagnosis (genetic or non-genetic pathology: exposure to neuroleptics, toxic origin)
- Impossibility of providing the subject with informed information
- Subject under judicial protection
- Subject under guardianship or curatorship
Key Trial Info
Start Date :
December 1 2024
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
January 1 2027
Estimated Enrollment :
14 Patients enrolled
Trial Details
Trial ID
NCT06576713
Start Date
December 1 2024
End Date
January 1 2027
Last Update
August 29 2024
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