Trials / Completed
CompletedNCT04257513
Clinical Study to Monitor Plasma Levels of 24OHC in Subject with HD
Innovative Therapeutic Strategy Targeting Neurons with Cholesterol in Huntington Disease: from Preclinical Studies to Clinical Trial Readiness
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 60 (actual)
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Academic / Other
- Sex
- All
- Age
- 18 Years
- Healthy volunteers
- Not accepted
Summary
A 2-year clinical longitudinal study to measure plasma concentrations of 24S-hydroxycholesterol, a brain-derived cholesterol catabolite, in subjects with Huntington disease, from the presymptomatic to the symptomatic stages.
Detailed description
In cross-sectional studies, the plasma level of brain-derived 24S-hydroxycholesterol (24OHC) has been found to be significantly diminished in HD patients from the first stages of the disease. Furthermore, in HD gene-positive pre-symptomatic (pre-HD) the plasma levels can predict the development of motor signs of disease in subjects closer to onset, better than in subjects far from onset. These data suggest that circulating 24OHC might be a candidate biomarker for phenotypic conversion and for disease progression in different stages of the disease. Detailed neurological, cognitive and imaging data and blood samples will be collected at baseline, and after two years to investigate the rate of changes along the longitudinal study. Isotope dilution mass spectrometry (assay performed at Istituto di Ricerche Farmacologiche Mario Negri IRCCS) will be used to measure the plasma levels of brain-derived 24OHC and other sterols reflecting peripheral cholesterol synthesis. The investigators expect to establish whether changes in plasma 24OHC mark disease progression and, eventually, phenoconversion from pre-symptomatic to symptomatic stages in combination with clinical, cognitive and imaging parameters.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| DIAGNOSTIC_TEST | Brain MRI | Neurological and Cognitive evaluation; Brain MRI |
Timeline
- Start date
- 2019-10-31
- Primary completion
- 2023-03-06
- Completion
- 2023-06-02
- First posted
- 2020-02-06
- Last updated
- 2024-11-12
Locations
1 site across 1 country: Italy
Source: ClinicalTrials.gov record NCT04257513. Inclusion in this directory is not an endorsement.