An interventional study of Brain MRI and Lumbar Punction in Huntington Disease, sponsored by University Hospital, Montpellier. Recruiting at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-02-12.
Sponsored by University Hospital, Montpellier · Not applicable, Interventional, and Basic science
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.
285 studies on the registry are indexed under Huntington Disease; 49 are open to participants now.
This study's planned enrollment of 135 is above the median of 40 across 203 interventional studies indexed under Huntington Disease.
Browse Huntington Disease studies →University Hospital, Montpellier is the lead sponsor of 1,244 studies on the registry; 225 are open to participants now.
Counted across the registry records on this site, refreshed daily.
General inclusion criteria:
Patients inclusion criteria:
Control inclusion criteria:
Exclusion Criteria:
General exclusion criteria:
Patients exclusion criteria:
Control exclusion criteria:
Huntington's disease patients who agreed to have LP
Procedure: Brain MRI · Procedure: Lumbar Punction · Genetic: Blood sample · Other: Cognitive evaluation
Huntington's disease patient with contraindication to LP or refusal to have LP
Procedure: Brain MRI · Genetic: Blood sample · Other: Cognitive evaluation
Retrospective study with biologic samples of patients without Huntington's disease
Multimodal brain MRI: volumetry, diffusion tensor, functional rest MRI
Analysis of BDNF, Tau, NFL and TrkB in cerebrospinal fluid
Analysis of BDNF, Tau, NFL, and Val66Met polymorphism
Symbol Digit Modality Test (SDMT), Stroop test, Trail Making Test, Empan
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.
Time frame: Inclusion
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
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
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
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
University Hospital, Montpellier