ltra- High field ImaGing in Huntington*s Disease

Recruiting

Conditions: 10028037
10037173
autosomal dominant neurodegenerative disease
Huntington's chorea

Registration Number: NL-OMON54262

Lead Sponsor: Medisch Universitair Ziekenhuis Maastricht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 60

Inclusion Criteria

General inclusion criterium:
- Between 18 years and 75 years of age

Inclusion criteria pre-manifest participants:
- An UHDRS motor score <= 5
- CAG repeat size of 36 or more
*
Inclusion criteria manifest participants:
- An UHDRS motor score > 5
- Disease Stage 1 or 2
- CAG repeat size of 36 or more
- TFC between 7 and 13 (disease stage 1 or 2)

Inclusion Criteria gene negative controls
- a CAG repeat size of 35 or less

Exclusion Criteria

- Subjects with contra-indications for a MRI-scan as defined in the MRI
screening form of SCANNEXUS such as claustrophobia, subjects carrying
incompatible metallic devices, subjects who have an allergy for intravenous
contract or subjects who are pregnant.
- Manifest participants who are not capable of consenting
- Manifest patients not capable of undergoing MRI because of involuntary
movements.
- Genotype unknown
- Current participation in a drug trial
- Not agreeing to be informed about incidental findings on the MRI scan
- Known kidney insufficiency

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- The main study endpoint will be the structural and functional changes of the<br /><br>premanifest compared to early manifest and healthy family or gene negative<br /><br>controls, which will be assessed on 7T ultra-high field MR images. We will also<br /><br>use quantitative MRI approaches, since this enables us to detect small<br /><br>structural and anatomical differences which cannot be detected on qualitative<br /><br>MRI acquisitions.<br /><br>- BBB permeability as determined by DCE-MRI to assess the leakiness of the<br /><br>cerebral vasculature by dynamically measuring the rate of contrast agent<br /><br>transfer from blood into the interstitial space (leakage rate; units: ml.min<br /><br>1.100g). We will compare BBB permeability in early manifest HD with<br /><br>pre-manifest HD participants.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>We will assess the relationship between the imaging measures and clinical<br /><br>scores/ disease burden with regression analysis.<br /><br>We will investigate if gadolinium, injected during MRI, enters tear fluid.<br /><br>We will investigate if the level of gadolinium correlates with the level of BBB<br /><br>leakage on MRI.</p><br>