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NCT Number: NCT05808153

Innovative Imaging and Cognitive BIOmarkers to Predict Huntington's Disease Progression

Intro Huntington's disease (HD) patients suffer from motor, cognitive and behavioral impairments, with heterogeneous phenotypes and variable time course. This leads to a high variance of HD markers, none of which is currently sensitive enough to 1) measure disease progression from small cohort data, 2) predict disease entry in carriers of the HD mutation (during the prodromal phase or in patients considered asymptomatic: pre-HD patients), and 3) measure a significant evolution of the state of pre-HD patients over a time window compatible with the realization of clinical trials (about 2/3 years). Moreover, the markers of HD do not allow a fine stratification of the patients.

Hypothesis/Objective Our objectives are 1) to evaluate the sensitivity of new markers and assessment tools for symptomatic (HD) and presymptomatic (pre-HD) patients, 2) to define a model of disease progression, and 3) to establish an enrichment strategy to improve patient selection for future therapeutic trials.

Method We will evaluate newly developed cognitive tests, multimodal imaging techniques, biological markers and use innovative statistical approaches.

We will follow 60 patients with the mutation responsible for MH (40 presymptomatic pre-MH patients, 20 symptomatic MH patients) and 20 healthy volunteers (controls) over a 24-month period.

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Key information

Conditions

Huntington Disease Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Chorea Cognition Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Disease Attributes Disease Progression Dyskinesias Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Mental Disorders Movement Disorders Nervous System Diseases Neurocognitive Disorders Neurodegenerative Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hopital Henri MONDOR

Créteil, Île-de-France Region, 94000, France

Location status: Recruiting

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • For all participants:
  • Age ≥18 years and ≤65 years
  • Information and collection of written consent
  • Affiliation with a social security plan, beneficiary or beneficiary's right
  • Healthy controls
  • UHDRS functional score TFC = 13
  • Motor UHDRS score TMS < 6 With no known genetic disease and no direct relationship to an HD patient or family ancestors carrying the HD mutation (or knowing their genetic status with CAG < 36).
  • Manifest carriers
  • Number of GACs ≥ 40
  • CAP score ≥ 250
  • 10 ≤ TFC ≤ 13
  • TMS >5 if TFC=13
  • Diagnostic confidence level =4
  • Age of onset of disease > 20 years
  • Patients physically able to sign consent
  • Premanifest carriers
  • Number of GACs ≥ 40
  • CAP score ≥250
  • CFT = 13
  • TMS < 6
  • Patients physically able to sign consent

Exclusion criteria

  • Participant under guardianship or curatorship
  • Neurological or psychiatric disorder unrelated to HD
  • Intercurrent illness that may impact participant's performance
  • Chronic progressive neurological disease
  • Claustrophobia
  • Brain injury unrelated to HD
  • Pacemaker, intracorporeal metal, intracerebral clip, any metallic foreign body: implantable cardiac electronic device such as pacemakers, implantable cardioverter defibrillators etc., metallic intraocular foreign bodies, implantable neurostimulation systems, cochlear implants/ear implants, drug infusion pumps (insulin administration, analgesic drugs), or chemotherapy pumps): if possible, the patient should remove the device.
  • Catheters with metal components (Swan-Ganz catheter), metal fragments such as bullets, shotgun pellets and metal shrapnel, cerebral artery aneurysm clips, magnetic dental implants, tissue expander, artificial limb, hearing aid, piercing such as pacemaker,
  • Known hypersensitivity to the radiopharmaceutical preparation (excipients in the radiopharmaceutical preparation)
  • Pregnant or breastfeeding woman
  • Person under state medical aid
  • Person deprived of liberty
  • Person participating or having participated in an interventional study for less than 3 months or without time limit in a trial of neural transplants or gene therapy.
  • Person participating or having participated in a research protocol with a radiopharmaceutical injection for less than 12 months.
  • Neurological or psychiatric disorder unrelated to HD
  • Intercurrent disease that may impact participant's performance
  • Chronic progressive neurological disease
  • Claustrophobia
  • Brain injury unrelated to HD
  • Pacemaker, intracorporeal metal, intracerebral clip
  • Pregnant, breastfeeding or wanting to procreate during participation in the study.

Treatment and study plan

radiotracer injection

Radiation

MRI with radiotracer injection

Primary outcomes

  1. Genetic markers

    Time frame: Visit Month 0

Secondary outcomes

  1. cognitive tests

    Time frame: Visits Month 0, Month 1, Month 12, Month 24

    Cognitive scores - Neurological scores- Psychiatric scores

  2. biological markers

    Time frame: Visits Month 0, Month 1, Month 12, Month 24

    Neuroinflammation markers in blood - Neurodegeneration markers in blood

  3. multimodal imaging techniques

    Time frame: Visits Month 0, Month 12, Month 24

    MRI

  4. multimodal imaging techniques

    Time frame: Visits Month 0, Month 24

    PET/MRI

Study contacts

Contact information is provided by the study sponsor or research team.

Anne-Catherine BACHOUD-LEVI, PhD

CONTACT

[email protected]

(+33)1 49 81 23 10

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: I2BIO-HD

Important dates

Study start
2024
Primary completion
2025
Study completion
2027
First posted
Apr 11, 2023
Registry last updated
May 7, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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