Huntington DiseaseLCR-MHNCT04012411
Study of BDNF Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington's Disease
A study testing Brain MRI, Lumbar Punction and Blood sample in people with Huntington Disease, run by University Hospital, Montpellier at 1 site in France.
Trial summary
Huntington disease (HD, 1.3/10 000) is an autosomal dominant disease due to an abnormal expansion of CAG triplets in HTT gene. Several pathophysiological mechanisms have been evoked, including an alteration of the signaling pathway of the Brain Derived Neurotrophic Factor (BDNF), a neurotrophic factor involved in the… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Huntington Disease
- What is being tested?
- Brain MRI, Lumbar Punction and Blood sample
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 135 participants
- Where
- 1 siteFrance
- Study dates
- 3 Mar 2020to Sep 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
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- General inclusion criteria:
- age ≥ 18 years-old
- national health insurance cover
- Patients inclusion criteria:
- genetically confirmed Huntington's disease diagnosis (≥ 35 CAG repeat in HTT gene exon 1)
- written informed consent
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- only for patients "with lumbar puncture (LP)": patient agreement for LP
- Control inclusion criteria:
- anterior LP for medical reason with consent for biobank "Neuro" with following samples present in this biobank : 2 mL blood + 0.5 mL plasma + 0.5 mL cerebrospinal fluid
- information and non-opposition for the finality of this biobank
- paired by age with a patient (+/- 5 years difference)
Who cannot join
- General exclusion criteria:
- protected by law
- Patients exclusion criteria:
- Huntington's disease stage too Evolved that may interfere with cognitive evaluations or MRI
- contraindications to brain MRI
- only for patients "with LP": contraindications to LP
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- incapacity to give informed consent
- Control exclusion criteria:
- neurodegenerative of inflammatory central nervous system pathology
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
University Hospital of Montpellier
Montpellier
Cecilia Marelli, MD, +33(0)467336029, c-marelli@chu-montpellier.fr
About this study
Official title: Study of Brain Derived Neurotrophic Factor (BDNF) Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington's Disease
Huntington disease (HD, 1.3/10 000) is an autosomal dominant disease due to an abnormal expansion of CAG triplets in HTT gene.
Several pathophysiological mechanisms have been evoked, including an alteration of the signaling pathway of the Brain Derived Neurotrophic Factor (BDNF), a neurotrophic factor involved in the survival of neurons (striatal and hippocampal) and synaptic plasticity. BDNF is synthesized at the level of cortical neurons and transported, through the axonal transport in which the Htt is involved, to the nerve endings; it's then secreted in response to excitatory synaptic activity, especially at the level of glutamatergic synapses. Besides, at the postsynaptic level it binds with great specificity to TrkB receptors (tropomyosin-related kinase receptors B) with a neuroprotective effect on dendritic and axonal growth and an increase in synaptic plasticity, especially at the level of the striatum and the hippocampus.
Read more
BDNF is decreased in the brain of animal models, as well as in patients with HD; the alteration of this pathway would occur in the early stages of the disease.
In the context of concomitant multiple treatments, the BNDF pathway may be one of the therapeutic targets of HD.
Moreover, in HD it remains essential to detect biological markers representative of the different pathogenic pathways that can be tested in vivo in humans to confirm the hypotheses developed at the level of basic research; these biomarkers could subsequently become biomarkers of disease progression and/or biomarkers of therapeutic efficacy of potential targeted treatments.
Therefore, this study aims to characterize potential biomarkers of the BNDF pathway in plasma and CSF in subjects with HD and to confirm the importance of this pathogenic mechanism in vivo in humans.
Read the detailed description
- Design: Multicentre prospective case-control study. Centres: University Hospital of Montpellier, France; University Hospital of Bordeaux, France; University Hospital of Nimes, France; University Hospital of Poitiers, France.
- Main objective: To evaluate BDNF in cerebrospinal fluid as a potential marker of the BDNF-TrkB signaling pathway in vivo in HD patients at a symptomatic stage.
- Secondary objectives: i) Evaluate plasma BDNF in subjects with HD; ii) Study the correlation between BDNF in CSF and BDNF in plasma; iii) Study the correlation between markers of the BDNF pathway and clinical severity, multimodal brain MRI parameters, and relevant markers of evolution of HD; iv) Confirm the increase of Tau and NFL (Neurofilament Light Chain) markers in plasma and in CSF, as markers of neuronal degeneration, in subjects with HD ; v) Test the TrkB assay in the CSF of patients with HD
- Inclusion Criteria. General inclusion criteria: age ≥ 18 years old; national health insurance cover. Patient inclusion criteria: genetically confirmed Huntington's disease diagnosis (≥ 35 CAG repeat in HTT gene exon 1); written informed consent; patient agreement for LP, if requested. Control inclusion criteria: previous LP for medical reason; agreement for inclusion in a biobank for research purposes.
- Exclusion Criteria. General exclusion criteria: subject protected by law, under curatorship or guardianship. Patients exclusion criteria: too severe HD, according to the clinician's judgment, possibly making difficult to perform cognitive evaluation or MRI; contraindications to brain MRI; contraindications to LP; inability to give informed consent. Control exclusion criteria: presence of a neurodegenerative of inflammatory central nervous system disease.
- Inclusion period: 48 months
- Duration of participation for each patient: 123 days maximum
- Total research duration: 64 months
- Plan of the study. Patients group: in 90 patients with HD, the investigators will perform: a collection of the main anamnestic and clinical data; a blood test for the determination of plasmatic BDNF, Tau and NFL and the genotyping of the Val66Met polymorphism of the BDNF gene; multimodal brain MRI with volumetry, diffusion tensor, functional MRI of rest; a measurement of the severity of Huntington's disease and Total Functional Capacity scales; neuropsychological tests (SDMT, STROOP test, Trail Making Test (TMT) A and B, digit span). In a subgroup of 45 patients, the investigators will also perform a lumbar puncture for the determination of BDNF, Tau, NFL and TrkB in CSF. Control Group: 45 controls will be selected from the samples present in the existing Biobank with CSF and plasma samples available in Montpellier, France. MRI data will be centralized and processed by the Imaging Institute I2FH Montpellier University Hospital.
- Conditions
- Huntington Disease
- Being tested
- Brain MRI, Lumbar Punction, Blood sample, Cognitive evaluation
- Keywords
- Huntington Disease, CSF, Biomarkers, BDNF, P42
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Brain MRIProcedure or surgery
Multimodal brain MRI: volumetry, diffusion tensor, functional rest MRI
Lumbar PunctionProcedure or surgery
Analysis of BDNF, Tau, NFL and TrkB in cerebrospinal fluid
Blood sampleGenetic
Analysis of BDNF, Tau, NFL, and Val66Met polymorphism
Cognitive evaluationOther
Symbol Digit Modality Test (SDMT), Stroop test, Trail Making Test, Empan
| Study group | Role | What they receive |
|---|---|---|
| Patient with LP | Active comparator | Huntington's disease patients who agreed to have LP Receives: Procedure: Brain MRI; Procedure: Lumbar Punction; Genetic: Blood sample; Other: Cognitive evaluation |
| Patient without LP | Active comparator | Huntington's disease patient with contraindication to LP or refusal to have LP Receives: Procedure: Brain MRI; Genetic: Blood sample; Other: Cognitive evaluation |
| Control Group | No intervention | Retrospective study with biologic samples of patients without Huntington's disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
BDNF(csf) in HD subjects compared to age-matched control subjects (+/- 5 years)
centralized ELISA assay with Simoa - Quanterix kit technology at the Laboratory of Clinical Proteomic Biochemistry of Montpellier, France.
Measured: Inclusion
Secondary outcomes (5)
plasmatic BDNF in HD subjects vs controls
Measured: Inclusion
Correlation between BDNF in CSF and BDNF in plasma
Measured: Inclusion
Correlation between BDNF and disease parameters
Correlation between BDNF in CSF or plasma and: disease severity, assessed through a Scale that quantifies the severity of the disease, the disease burden formula [(n.CAG-35.5) x age], the Total Functional Capacity functional scale (TFC), and cognitive scales (Symbol Digit Modalities Test, STROOP test, Trail Making test A and B, direct and indirect digit span); - MRI brain imaging: cerebral and striatal atrophy by morphological imaging, functional resting state MRI, and anatomical connectivity by diffusion tensor imaging
Measured: Inclusion
Total Tau and NFL levels in plasma and CSF in HD subjects vs control subjects
Measured: Inclusion
TrkBcsf level in subjects with HD vs control subjects
Measured: Inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jul 2019
- Study start3 Mar 2020
- Primary completionSep 2027 (estimated)
- Study completionSep 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Huntington DiseaseStudies of the same condition, open and under way.
- 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
- 135 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04012411
- Sponsor's protocol ID
- RECHMPL19_0081
- Acronym
- LCR-MH
- Status last verified
- Feb 2026
- First submitted
- 4 Jul 2019
- Last updated
- 12 Feb 2026
- 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 12 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Brain Derived Neurotrophic Factor (BDNF) Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington's Disease
- ClinicalTrials.gov ID
- NCT04012411
- Acronym / sponsor ID
- LCR-MH / RECHMPL19_0081
- Conditions
- Huntington Disease
- Keywords
- Huntington Disease, CSF, Biomarkers, BDNF, P42
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 135 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 3 Mar 2020 (actual)
- Primary completion
- Sep 2027 (estimated)
- Study completion
- Sep 2027 (estimated)
- First posted
- 9 Jul 2019 (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.
Huntington disease (HD, 1.3/10 000) is an autosomal dominant disease due to an abnormal expansion of CAG triplets in HTT gene.
Several pathophysiological mechanisms have been evoked, including an alteration of the signaling pathway of the Brain Derived Neurotrophic Factor (BDNF), a neurotrophic factor involved in the survival of neurons (striatal and hippocampal) and synaptic plasticity. BDNF is synthesized at the level of cortical neurons and transported, through the axonal transport in which the Htt is involved, to the nerve endings; it's then secreted in response to excitatory synaptic activity, especially at the level of glutamatergic synapses. Besides, at the postsynaptic level it binds with great specificity to TrkB receptors (tropomyosin-related kinase receptors B) with a neuroprotective effect on dendritic and axonal growth and an increase in synaptic plasticity, especially at the level of the striatum and the hippocampus.
BDNF is decreased in the brain of animal models, as well as in patients with HD; the alteration of this pathway would occur in the early stages of the disease.
In the context of concomitant multiple treatments, the BNDF pathway may be one of the therapeutic targets of HD.
Moreover, in HD it remains essential to detect biological markers representative of the different pathogenic pathways that can be tested in vivo in humans to confirm the hypotheses developed at the level of basic research; these biomarkers could subsequently become biomarkers of disease progression and/or biomarkers of therapeutic efficacy of potential targeted treatments.
Therefore, this study aims to characterize potential biomarkers of the BNDF pathway in plasma and CSF in subjects with HD and to confirm the importance of this pathogenic mechanism in vivo in humans.
Detailed description
- Design: Multicentre prospective case-control study. Centres: University Hospital of Montpellier, France; University Hospital of Bordeaux, France; University Hospital of Nimes, France; University Hospital of Poitiers, France.
- Main objective: To evaluate BDNF in cerebrospinal fluid as a potential marker of the BDNF-TrkB signaling pathway in vivo in HD patients at a symptomatic stage.
- Secondary objectives: i) Evaluate plasma BDNF in subjects with HD; ii) Study the correlation between BDNF in CSF and BDNF in plasma; iii) Study the correlation between markers of the BDNF pathway and clinical severity, multimodal brain MRI parameters, and relevant markers of evolution of HD; iv) Confirm the increase of Tau and NFL (Neurofilament Light Chain) markers in plasma and in CSF, as markers of neuronal degeneration, in subjects with HD ; v) Test the TrkB assay in the CSF of patients with HD
- Inclusion Criteria. General inclusion criteria: age ≥ 18 years old; national health insurance cover. Patient inclusion criteria: genetically confirmed Huntington's disease diagnosis (≥ 35 CAG repeat in HTT gene exon 1); written informed consent; patient agreement for LP, if requested. Control inclusion criteria: previous LP for medical reason; agreement for inclusion in a biobank for research purposes.
- Exclusion Criteria. General exclusion criteria: subject protected by law, under curatorship or guardianship. Patients exclusion criteria: too severe HD, according to the clinician's judgment, possibly making difficult to perform cognitive evaluation or MRI; contraindications to brain MRI; contraindications to LP; inability to give informed consent. Control exclusion criteria: presence of a neurodegenerative of inflammatory central nervous system disease.
- Inclusion period: 48 months
- Duration of participation for each patient: 123 days maximum
- Total research duration: 64 months
- Plan of the study. Patients group: in 90 patients with HD, the investigators will perform: a collection of the main anamnestic and clinical data; a blood test for the determination of plasmatic BDNF, Tau and NFL and the genotyping of the Val66Met polymorphism of the BDNF gene; multimodal brain MRI with volumetry, diffusion tensor, functional MRI of rest; a measurement of the severity of Huntington's disease and Total Functional Capacity scales; neuropsychological tests (SDMT, STROOP test, Trail Making Test (TMT) A and B, digit span). In a subgroup of 45 patients, the investigators will also perform a lumbar puncture for the determination of BDNF, Tau, NFL and TrkB in CSF. Control Group: 45 controls will be selected from the samples present in the existing Biobank with CSF and plasma samples available in Montpellier, France. MRI data will be centralized and processed by the Imaging Institute I2FH Montpellier University Hospital.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patient with LP | Active comparator | Procedure: Brain MRI, Procedure: Lumbar Punction, Genetic: Blood sample, Other: Cognitive evaluationHuntington's disease patients who agreed to have LP |
| Patient without LP | Active comparator | Procedure: Brain MRI, Genetic: Blood sample, Other: Cognitive evaluationHuntington's disease patient with contraindication to LP or refusal to have LP |
| Control Group | No intervention | –Retrospective study with biologic samples of patients without Huntington's disease |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (11 listed)
- General inclusion criteria:
- Patients inclusion criteria:
- Control inclusion criteria:
Key exclusion criteria (9 listed)
- General exclusion criteria:
- Patients exclusion criteria:
- Control exclusion criteria:
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 |
|---|---|---|
| Brain MRIMultimodal brain MRI: volumetry, diffusion tensor, functional rest MRI | Procedure or surgery | Patient with LP, Patient without LP |
| Lumbar PunctionAnalysis of BDNF, Tau, NFL and TrkB in cerebrospinal fluid | Procedure or surgery | Patient with LP |
| Blood sampleAnalysis of BDNF, Tau, NFL, and Val66Met polymorphism | Genetic | Patient with LP, Patient without LP |
| Cognitive evaluationSymbol Digit Modality Test (SDMT), Stroop test, Trail Making Test, Empan | Other | Patient with LP, Patient without LP |
Primary outcome
BDNF(csf) in HD subjects compared to age-matched control subjects (+/- 5 years)
Time frame: Inclusion
centralized ELISA assay with Simoa - Quanterix kit technology at the Laboratory of Clinical Proteomic Biochemistry of Montpellier, France.
5 secondary outcomes
plasmatic BDNF in HD subjects vs controls
Time frame: Inclusion
Correlation between BDNF in CSF and BDNF in plasma
Time frame: Inclusion
Correlation between BDNF and disease parameters
Time frame: Inclusion
Total Tau and NFL levels in plasma and CSF in HD subjects vs control subjects
Time frame: Inclusion
TrkBcsf level in subjects with HD vs control subjects
Time frame: Inclusion
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 12 Feb 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 Brain MRI, Lumbar Punction and Blood sample in people with Huntington Disease, run by University Hospital, Montpellier 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 11 inclusion and 9 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 12 Feb 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 Cecilia MARELLI, MD (+33(0)467336029, c-marelli@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
BDNF(csf) in HD subjects compared to age-matched control subjects (+/- 5 years) (time frame: Inclusion). 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 12 Feb 2026.