Study of Brain Derived Neurotrophic Factor (BDNF) Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington’s Disease



University Hospital, Montpellier



The main purpose of this study is to be able to confirm whether a protein called Brain Derived Neurotrophic Factor (BDNF) is a biomarker for Huntington’s disease (HD). A biomarker is a measurable indicator of a disease or condition. It can for instance be a level of something in your blood or in this case a protein level. Moreover, a biomarker is an indicator of disease progression in Huntington’s disease. It is also crucial when researchers want to study whether a treatment works or not (eg. by studying whether a protein level is lowered or not). 

REVHD will recruit 135 participants who will be followed for a period of 2 years. Their levels of BDNF will be measured in samples taken both from the cerebrospinal fluid and blood. The symptom development in the 2 year trial period, will also be monitored with brain imaging and by testing cognitive functions. The study will investigate how the levels of BDNF in the blood and the cerebrospinal fluid differ or correspond. The study will also try to identify the connection between BDNF levels and symptom development.

Why is this study important? We have good reasons to believe that BDNF has an active role in protecting damaged brain cells as well as enhancing growth of new ones. The study will provide us with more solid information about the connection between BDNF and symptom development in humans with Huntington’s. If proven to be relevant, BDNF levels will probably be a target for treatment in the future. In this study the BDNF levels in cerebrospinal fluid and blood will hopefully be identified as a biomarker for Huntington’s disease. 

Estimated Study Completion Date: July 2024

Ages Eligible for Study:

18 Years and older (Adult, Older Adult)

Sexes Eligible for Study:


Accepts Healthy Volunteers:


Inclusion Criteria

  • 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)

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



University Hospital of Montpellier

Address: Montpellier, France

Cecilia Marelli

Diana Ban