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

RecruitingNAAges 18 Years - anyAllUniversity Hospital, Montpellier
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In plain words

What the trial is, and whether it could suit you

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 t

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๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * General inclusion criteria: * age โ‰ฅ 18 years-old * national health insurance cover * Patients inclusion criteria: * genetically confirmed Huntington's disease diagnosis (โ‰ฅ 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) Exclusion Criteria: * 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
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What it tests

  • Brain MRI
  • Lumbar Punction
  • Blood sample
  • Cognitive evaluation
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Where

1 site
University Hospital of Montpellier
Montpellier, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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