NCT06576713Recruiting
Combined Genome and RNA Sequencing for Genetic Diagnosis of Parkinsonism
Identification of the Missing Genetic Causes of Parkinsonian Syndromes: a Combined Approach by Genome and RNA Sequencing
Source: ClinicalTrials.gov · Last updated 21 Aug 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Interventional
- Enrollment
- 14 (estimated)
- First submitted
- 26 Aug 2024
- Start date
- 14 Jan 2025
- Primary completion date
- 1 Jan 2027
- Lead sponsor
- University Hospital, Strasbourg, France
- Diseases
- Parkinson disease
- NCT number
- NCT06576713
What you commit to
- Study type: Interventional
- Planned participants: 14
- From 14 Jan 2025 to the primary completion date, 1 Jan 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Molecular cause of parkinsonism previously identified
- Absence of prior genetic exploration by high-throughput DNA sequencing
Other illness
- Patient with Parkinson's syndrome associated with a specific diagnosis (genetic or non-genetic pathology: exposure to neuroleptics, toxic origin)
Age
- Patient with late-onset sporadic parkinsonian syndrome (\> 40 years) without family history
Other
- \- Contraindication for performing a superficial skin biopsy provided for by the protocol
- Impossibility of providing the subject with informed information
- Subject under judicial protection
- Subject under guardianship or curatorship
Who the study is looking for
- 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
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hopitaux Universitaires de Strasbourg Coordinator of this site? Confirm its status | Strasbourg | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.