NCT06576713 Combined Genome and RNA Sequencing for Genetic Diagnosis of Parkinsonism
| NCT ID | NCT06576713 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University Hospital, Strasbourg, France |
| Condition | Parkinson's Disease |
| Study Type | INTERVENTIONAL |
| Enrollment | 14 participants |
| Start Date | 2025-01-14 |
| Primary Completion | 2027-01-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 14 participants in total. It began in 2025-01-14 with a primary completion date of 2027-01-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 diagnosis. Studying the genetic forms of parkinsonian syndromes presents numerous clinical, scientific and therapeutic interests. In clinical practice, identifying the genetic cause in a patient allow to provide genetic counseling and estimate the risk of recurrence in their relatives. Establishing correlations between the genotype and phenotype of patients with genetically determined parkinsonism, allow to better anticipate the evolution of the disease, or even to highlight biomarkers during the presymptomatic phases. Finally, the proteins encoded by the genes implicated in familial parkinsonism represent potential therapeutic targets likely to be modulated by neuroprotective pharmacological agents, even in sporadic Parkinson's disease. In this work,investigators aimed at elucidating the missing genetic causes of parkinsonism through the application of combined RNA and whole genome sequencing.
Eligibility 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
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06576713 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Parkinson's Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06576713 currently recruiting?
Yes, NCT06576713 is actively recruiting participants. Contact the research team at thomas.wirth@chru-strasbourg.fr for enrollment information.
Where is the NCT06576713 trial being conducted?
This trial is being conducted at Strasbourg, France.
Who is sponsoring the NCT06576713 clinical trial?
NCT06576713 is sponsored by University Hospital, Strasbourg, France. The trial plans to enroll 14 participants.
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