Genetic DiseaseCNGDNCT06048523
Prospective Cohort Study of Neurogenetic Diseases
A study testing Patient cohort in people with Genetic Disease and Nervous System Diseases, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
Neurogenetic diseases (NGD) represent rare and hereditary forms of neurological diseases. The goal of CNGD is to create a one-window approach for NGDs, to facilitate and accelerate participation in research projects through deep phenotyping and the availability of low-cost biological samples for research teams. Read more about this study
- Who is it for?
- Ages 6 years and olderHealthy volunteers can take part
- Conditions the study is for
- Genetic Disease, Nervous System Diseases
- What is being tested?
- Patient cohort
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 1 siteFrance
- Study dates
- 18 Jul 2024to Jul 2030
- 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 6 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Patient-specific inclusion criteria
- Age ≥ 6 years
- Patient with a molecularly identified NGD
- o Specific inclusion criteria for controls
- For the 10 controls with lumbar puncture (LP): person who performed an LP for medical reasons and who consented to participate in the collection of biological samples
- Age ≥ 18 years
- Person matched in age (+/- 5 years) and sex to adult patient with NGD at the time of collection
Who cannot join
- Participation in an interventional clinical trial that may interfere with our study
- Refusal of blood collection
- Pregnant and breastfeeding women
- Only for patients performing LP: Contraindication to LP
- Specific non-inclusion criteria for controls: Criterion of a neurodegenerative or inflammatory pathology of the central nervous system
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
Chu de Bordeaux
Bordeaux
CHLOE ANGELINI, MD, chloe.angelini@chu-bordeaux.fr
About this study
Official title: Clinical and Paraclinical Characterisation of Neurogenetic Diseases, and Creation of a Hub to Facilitate Translational Research, From Basic to Clinical Research
Neurogenetic diseases (NGD) represent rare and hereditary forms of neurological diseases. The goal of CNGD is to create a one-window approach for NGDs, to facilitate and accelerate participation in research projects through deep phenotyping and the availability of low-cost biological samples for research teams. It is positioned as a true hub allowing new connections between clinical and basic research teams and ultimately as an incubator for translational projects for NGDs, in order to be able to initiate therapeutic trials, the ultimate objective of clinical and translational research.
Read the detailed description
Neurogenetic diseases (NGDs) represent rare inherited forms of neurological diseases. They constitute a constellation of different diseases, affecting neurodevelopment (syndromic or non-syndromic intellectual disabilities (ID), with or without autism spectrum disorders (ASD), epileptic encephalopathies, neurodevelopmental disorders (NDD) with or without ID... ) or leading to early neurodegeneration (Huntington's and Huntington-like disease, hereditary ataxias, hereditary spastic paraplegias (HSP), primary dystonias, neurodegeneration due to intracerebral iron accumulation (NBIA), neurometabolic diseases, etc.). Progress in the knowledge of the genetic causes of NGDs is unceasing, with the discovery of new genes involved in their determinism being continuous. As a result, the boundary between routine care and clinical research is extremely narrow and blurred, and the two activities are totally intertwined and interdependent in the care of patients.
For patients with NGDs already characterized by molecular genetics, at an early, intermediate or presymptomatic stage, we will perform a comprehensive annual standardized clinical and paraclinical evaluation for deep phenotyping as part of routine care; collection of biological samples (annual blood and urine sampling, optional skin biopsy and optional cerebrospinal fluid (CSF) sampling), for functional analyses and better understanding of the pathophysiological mechanisms involved. This study will last 3 years
- Conditions
- Genetic Disease, Nervous System Diseases
- Being tested
- Patient cohort, Control cohort
- Keywords
- Hub, Translational research, Neurogenetics disorders, Biocollection
- Medical subject headings
- Genetic Diseases, Inborn, Nervous System Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient cohortProcedure or surgery
- For patients: annual follow-up in Neurogenetic reference center, as part of routine care, with exhaustive standardised clinical evaluation
- Paraclinical monitoring (e.g. MRI, EEG, EMG, etc.) modelled on standard care according to current recommendations
- Biological samples offered to patients in the context of research:
- Annual blood sample
- Annual urine sample
- Collection of 1 skin biopsy at the inclusion visit (for 30 patients)
- Cerebrospinal fluid sample at the inclusion visit (for 15 patients
Control cohortProcedure or surgery
- controls without LP: 1 visit for blood, urine and optional skin biopsy
- controls with LP: additional blood and cerebrospinal fluid tubes for blood sampling and LP as part of routine care, without longitudinal follow-up
| Study group | Role | What they receive |
|---|---|---|
| Patient cohort | Other | Patients with a molecularly identified NGD (80 patients in total of which 15 with LP (Lumbar Puncture) and of which 30 with cutaneous biopsy) Receives: Procedure: Patient cohort |
| Control cohort | Other | Patients control: 10 controls with lumbar puncture and 10 controls without LP (Lumbar Puncture) Receives: Procedure: Control cohort |
What is being measured
The primary outcome is the main question the study is designed to answer.
Constitution of a biobank of NGD patients correlated with clinical data
Number of participants for whom minimum clinical data have been collected and for whom at least one at least one protocol sample has been collected
Measured: Inclusion visit, 12 months visit and 24 months visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2023
- Study start18 Jul 2024
- Primary completionJul 2030 (estimated)
- Study completionJul 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe 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
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Chloe ANGELINI, MD, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06048523
- Sponsor's protocol ID
- CHUBX 2022/73
- Acronym
- CNGD
- Status last verified
- Jan 2025
- First submitted
- 13 Jun 2023
- Last updated
- 25 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Paraclinical Characterisation of Neurogenetic Diseases, and Creation of a Hub to Facilitate Translational Research, From Basic to Clinical Research
- ClinicalTrials.gov ID
- NCT06048523
- Acronym / sponsor ID
- CNGD / CHUBX 2022/73
- Conditions
- Genetic Disease, Nervous System Diseases
- Keywords
- Hub, Translational research, Neurogenetics disorders, Biocollection
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 18 Jul 2024 (actual)
- Primary completion
- Jul 2030 (estimated)
- Study completion
- Jul 2030 (estimated)
- First posted
- 21 Sep 2023 (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.
Neurogenetic diseases (NGD) represent rare and hereditary forms of neurological diseases. The goal of CNGD is to create a one-window approach for NGDs, to facilitate and accelerate participation in research projects through deep phenotyping and the availability of low-cost biological samples for research teams. It is positioned as a true hub allowing new connections between clinical and basic research teams and ultimately as an incubator for translational projects for NGDs, in order to be able to initiate therapeutic trials, the ultimate objective of clinical and translational research.
Detailed description
Neurogenetic diseases (NGDs) represent rare inherited forms of neurological diseases. They constitute a constellation of different diseases, affecting neurodevelopment (syndromic or non-syndromic intellectual disabilities (ID), with or without autism spectrum disorders (ASD), epileptic encephalopathies, neurodevelopmental disorders (NDD) with or without ID... ) or leading to early neurodegeneration (Huntington's and Huntington-like disease, hereditary ataxias, hereditary spastic paraplegias (HSP), primary dystonias, neurodegeneration due to intracerebral iron accumulation (NBIA), neurometabolic diseases, etc.). Progress in the knowledge of the genetic causes of NGDs is unceasing, with the discovery of new genes involved in their determinism being continuous. As a result, the boundary between routine care and clinical research is extremely narrow and blurred, and the two activities are totally intertwined and interdependent in the care of patients.
For patients with NGDs already characterized by molecular genetics, at an early, intermediate or presymptomatic stage, we will perform a comprehensive annual standardized clinical and paraclinical evaluation for deep phenotyping as part of routine care; collection of biological samples (annual blood and urine sampling, optional skin biopsy and optional cerebrospinal fluid (CSF) sampling), for functional analyses and better understanding of the pathophysiological mechanisms involved. This study will last 3 years
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient cohort | Other | Procedure: Patient cohortPatients with a molecularly identified NGD (80 patients in total of which 15 with LP (Lumbar Puncture) and of which 30 with cutaneous biopsy) |
| Control cohort | Other | Procedure: Control cohortPatients control: 10 controls with lumbar puncture and 10 controls without LP (Lumbar Puncture) |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- Patient-specific inclusion criteria
- Age ≥ 6 years
- Patient with a molecularly identified NGD
- o Specific inclusion criteria for controls
- For the 10 controls with lumbar puncture (LP): person who performed an LP for medical reasons and who consented to participate in the collection of biological samples
Key exclusion criteria (5 listed)
- Participation in an interventional clinical trial that may interfere with our study
- Refusal of blood collection
- Pregnant and breastfeeding women
- Only for patients performing LP: Contraindication to LP
- Specific non-inclusion criteria for controls: Criterion of a neurodegenerative or inflammatory pathology of the central nervous system
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 |
|---|---|---|
| Patient cohort* For patients: annual follow-up in Neurogenetic reference center, as part of routine care, with exhaustive standardised clinical evaluation * Paraclinical monitoring (e.g. MRI, EEG, EMG, etc.) modelled on standard care according to current recommendations * Biological samples offered to patients in the context of research: * Annual blood sample * Annual urine sample * Collection of 1 skin biopsy at the inclusion visit (for 30 patients) * Cerebrospinal fluid sample at the inclusion visit (for 15 patients | Procedure or surgery | Patient cohort |
| Control cohort* controls without LP: 1 visit for blood, urine and optional skin biopsy * controls with LP: additional blood and cerebrospinal fluid tubes for blood sampling and LP as part of routine care, without longitudinal follow-up | Procedure or surgery | Control cohort |
Primary outcome
Constitution of a biobank of NGD patients correlated with clinical data
Time frame: Inclusion visit, 12 months visit and 24 months visit
Number of participants for whom minimum clinical data have been collected and for whom at least one at least one protocol sample has been collected
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 25 Feb 2025.
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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.
Chloe ANGELINI, MD principal investigator
University Hospital, Bordeaux
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Patient cohort in people with Genetic Disease and Nervous System Diseases, run by University Hospital, Bordeaux 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 7 inclusion and 5 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 25 Feb 2025. 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 Chloe ANGELINI, MD (+335 56 79 59 52, chloe.angelini@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Constitution of a biobank of NGD patients correlated with clinical data (time frame: Inclusion visit, 12 months visit and 24 months visit). 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 25 Feb 2025.