Genetic Diagnosis of Parkinsonism with Genome and RNA Sequencing
Official title: Identification of the Missing Genetic Causes of Parkinsonian Syndromes: a Combined Approach by Genome and RNA Sequencing
Run by University Hospital, Strasbourg, France · NCT06576713 · Data updated 2026-11-12
This study tests whether combining whole-genome sequencing with RNA sequencing from skin biopsy and blood samples can identify genetic causes in people with early-onset or familial Parkinsonism.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 14 (estimated) |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 1 site (Strasbourg, Grand Est) |
| Status | Recruiting |
| Started | January 14, 2025 |
| Main results expected | January 1, 2027 |
| Study ends | January 1, 2027 |
| Registry record updated | August 21, 2026 |
| Trial ID | NCT06576713 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals with early-onset or familial parkinsonism, no prior pathogenic genetic variant identified after exome sequencing, and willingness to provide blood and skin samples.
✕Probably not a fit
Patients whose parkinsonism has a non-genetic basis or who do not have detectable genetic or transcriptomic changes may not benefit from a genetic diagnosis.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Researchers will recruit 14 patients with early-onset parkinsonism and no known genetic cause after exome testing. They will collect blood and skin samples to perform whole-genome sequencing and RNA sequencing, then integrate the data to look for pathogenic variants and abnormal gene expression or splicing. The approach aims to link genetic findings with transcriptomic data to improve diagnosis and understand disease mechanisms. The study emphasizes the potential for genetic counseling and identifying biomarkers or targets for therapy. All analyses will be conducted on the selected cohort and report integrated results for each participant.
Why it matters
Potential benefit: If successful, patients and families may receive a molecular diagnosis and better information about prognosis and recurrence risk.
How similar studies have gone: Similar genome and transcriptome approaches have shown promise in revealing genetic causes in neurodegenerative diseases, but this specific combined strategy for parkinsonism is exploratory.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Criteria: * \- 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
Where it's running
-
Hôpitaux Universitaires de Strasbourg
Strasbourg, Grand Est, France Recruiting
Study contacts
- Study coordinator: Thomas Wirth
- Email: thomas.wirth@chru-strasbourg.fr
- Phone: 03.88.12.80.19
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.