Biology-Driven Cognitive Profiling in Huntington's Disease

Plain-language summary

This study aims to profile cognitive changes in Huntington's disease by linking them to biological markers and PET and MRI imaging. Healthy volunteers aged 18 to 75, as well as premanifest and manifest Huntington's disease carriers with a genetically confirmed HTT CAG expansion (CAG > 38), may take part. This is a study with no assigned phase; it is active but not currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Active, not recruiting

Sponsor

Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Start date

9/1/2021

Estimated completion

7/1/2026

Countries

Spain

Related genes

Locations

• Barcelona, Spain

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Age between 18 and 75 years
* Ability to provide written informed consent approved by the Ethics Committee
* Ability to comply with study procedures, including PET imaging, MRI, cognitive testing, and blood sampling
* Participants in the Healthy Control cohort must meet the following criteria:

  1. No history of neurological or psychiatric disorders
  2. No family history of Huntington's disease
  3. Normal cognitive status based on clinical evaluation
* Participants in the Premanifest Huntington's disease gene carrier cohort must meet the following criteria:

  1. Genetically confirmed HTT CAG expansion (CAG \> 38)
  2. CAP score \> 250
  3. Unified Huntington's Disease Rating Scale - Total Motor Score (UHDRS-TMS) \< 4
  4. Total Functional Capacity (TFC) = 13
  5. Absence of manifest motor diagnosis (Diagnostic Confidence Level \< 4)
* Participants in the Manifest Huntington's disease cohort (early-intermediate stage) must meet the following criteria:

  1. Genetically confirmed HTT CAG expansion (CAG \> 38)
  2. Diagnostic Confidence Level (DCL = 4) confirming manifest Huntington's disease
  3. CAP score \> 350
  4. Total Functional Capacity (TFC) \> 6

Exclusion Criteria:

* Any severe medical condition or circumstance that, in the investigator's judgment, may compromise safe participation in the study
* Current or previous participation in the RG6042 / tominersen (mHTT-lowering) clinical trial
* Participation in any interventional clinical trial within the last 12 months
* Pregnancy or breastfeeding, or intention to become pregnant during the study period
* Contraindications to PET imaging, MRI, or venous blood sampling