Parkinson's DiseaseParkOmicNCT06576713
Combined Genome and RNA Sequencing for Genetic Diagnosis of Parkinsonism
A study testing Combiner whole genome and RNA sequencing in people with Parkinson's Disease, run by University Hospital, Strasbourg, France at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Parkinson's Disease
- What is being tested?
- Combiner whole genome and RNA sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 14 participants
- Where
- 1 siteFrance
- Study dates
- 14 Jan 2025to 1 Jan 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- - 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpitaux Universitaires de Strasbourg
Strasbourg, Grand Est, 67000
Thomas WIRTH, 0033388128919, thomas.wirth@chru-strasbourg.fr
About this study
Official title: Identification of the Missing Genetic Causes of Parkinsonian Syndromes: a Combined Approach by Genome and RNA Sequencing
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.
Read the 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 blood sample collection following the inclusion visit for DNA extraction, patients will receive a skin biopsy for fibroblast culture and RNA extraction for RNA sequencing. The genome sequencing will be performed on an Illumina® HiSeq4000 sequencer.
Investigators will also perform skin biopsies on patients for fibroblast cultures in order to extract RNA for RNA sequencing. The choice of fibroblast analysis for the study of the transcriptome is justified by the fact that genes expressed in the brain likely to be associated with neurodegenerative diseases are more frequently expressed in the skin than in the other clinically accessible tissues such as blood. Skin biopsies will be performed by the referring clinicians, and RNA extraction will be carried out using the Quiagen® RNeasy kit.
Transcriptome analysis by RNA sequencing including sequencing and bioinformatics processing of data, including detection of aberrant splicing (LeafCutter), aberrant expressions (DESeq) and identification of variants (GATK + Varank) will also be carried out Genome data will be integrated with data from RNA sequencing. Investigators plan to analyze all 14 patients according to this strategy.
- Conditions
- Parkinson's Disease
- Being tested
- Combiner whole genome and RNA sequencing
- Medical subject headings
- Parkinson Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Combiner whole genome and RNA sequencingDiagnostic test
High-throughput DNA and RNA sequencing
| Study group | Role | What they receive |
|---|---|---|
| Genome and RNA sequencing | Experimental | Not described Receives: Diagnostic Test: Combiner whole genome and RNA sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic diagnosis rate
To estimate the rate of genetic diagnoses obtained by genome sequencing coupled with RNA sequencing within a cohort of patients presenting with early onset or familial parkinsonian syndromes without molecular diagnosis.
Measured: 18 months
Secondary outcomes (6)
Genes implicated
Estimate the proportion of patients carrying pathogenic or probably pathogenic variants in each of the genes identified in this work
Measured: 18 months
Contribution of RNA sequencing
Estimate the proportion of pathogenic or probably pathogenic variants detected secondarily thanks to the contribution of RNA sequencing and not identified by analysis of the genome taken in isolation.
Measured: 18 months
Genotype and Phenotype correlation
Estimate the proportion of patients presenting specific clinical, biological and imaging characteristics for each identified genetic cause (genotype/phenotype correlation).
Measured: 18 months
New genetic causes
Describe new molecular mechanisms of parkinsonian syndromes.
Measured: 18 months
Tolerance
Estimate the proportion of patients experiencing an adverse event related to the procedure.
Measured: 18 months
New associated genes
Describe new genes associated with parkinsonian syndromes.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Aug 2024
- Study start14 Jan 2025
- Primary completion1 Jan 2027 (estimated)
- Study completion1 Jan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Parkinson's DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 14 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06576713
- Sponsor's protocol ID
- 9320
- Acronym
- ParkOmic
- Status last verified
- Aug 2026
- First submitted
- 26 Aug 2024
- Last updated
- 21 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of the Missing Genetic Causes of Parkinsonian Syndromes: a Combined Approach by Genome and RNA Sequencing
- ClinicalTrials.gov ID
- NCT06576713
- Acronym / sponsor ID
- ParkOmic / 9320
- Conditions
- Parkinson's Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 14 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 14 Jan 2025 (actual)
- Primary completion
- 1 Jan 2027 (estimated)
- Study completion
- 1 Jan 2027 (estimated)
- First posted
- 29 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 blood sample collection following the inclusion visit for DNA extraction, patients will receive a skin biopsy for fibroblast culture and RNA extraction for RNA sequencing. The genome sequencing will be performed on an Illumina® HiSeq4000 sequencer.
Investigators will also perform skin biopsies on patients for fibroblast cultures in order to extract RNA for RNA sequencing. The choice of fibroblast analysis for the study of the transcriptome is justified by the fact that genes expressed in the brain likely to be associated with neurodegenerative diseases are more frequently expressed in the skin than in the other clinically accessible tissues such as blood. Skin biopsies will be performed by the referring clinicians, and RNA extraction will be carried out using the Quiagen® RNeasy kit.
Transcriptome analysis by RNA sequencing including sequencing and bioinformatics processing of data, including detection of aberrant splicing (LeafCutter), aberrant expressions (DESeq) and identification of variants (GATK + Varank) will also be carried out Genome data will be integrated with data from RNA sequencing. Investigators plan to analyze all 14 patients according to this strategy.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genome and RNA sequencing | Experimental | Diagnostic Test: Combiner whole genome and RNA sequencing |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (8 listed)
- - 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Combiner whole genome and RNA sequencingHigh-throughput DNA and RNA sequencing | Diagnostic test | Genome and RNA sequencing |
Primary outcome
Genetic diagnosis rate
Time frame: 18 months
To estimate the rate of genetic diagnoses obtained by genome sequencing coupled with RNA sequencing within a cohort of patients presenting with early onset or familial parkinsonian syndromes without molecular diagnosis.
6 secondary outcomes
Genes implicated
Time frame: 18 months
Contribution of RNA sequencing
Time frame: 18 months
Genotype and Phenotype correlation
Time frame: 18 months
New genetic causes
Time frame: 18 months
Tolerance
Time frame: 18 months
New associated genes
Time frame: 18 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Aug 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Combiner whole genome and RNA sequencing in people with Parkinson's Disease, run by University Hospital, Strasbourg, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 21 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact THOMAS WIRTH (03.88.12.80.19 ext. +33, thomas.wirth@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic diagnosis rate (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Aug 2026.