Study of BDNF Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington's Disease

Recruiting now · Not applicable

Conditions studied: Huntington Disease

In brief

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.

Key facts

Study ID

NCT04012411

Run by

University Hospital, Montpellier

People needed

135

Starts

2020-03-03

Expected to finish

2027-09-01

Last updated by the study team

2026-02-12

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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
• 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)

You may not qualify if…

• 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
• incapacity to give informed consent
• Control exclusion criteria:
• neurodegenerative of inflammatory central nervous system pathology

Where it is running

• University Hospital of Montpellier — Montpellier, France (enrolling)

Full record on ClinicalTrials.gov

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