Decoding Presymptomatic White Matter Changes in Huntington Disease (Win-HD)

Institut National de la Santé Et de la Recherche Médicale, France

Status: Completed

Conditions: Huntington Disease; White Matter Alterations

Treatments: Other: Brain imaging; Behavioral: Behavioural assessments; Behavioral: Psychological assessments; Other: Neurological assessments

Study type: Interventional

Funder types: Other

Identifiers

NCT03193099

2017-A00589-44 (Registry Identifier)

C16-115

Details and patient eligibility

About

WIN-HD is a monocentric longitudinal study comparing premanifest Huntingtin (HTT) mutation carriers and non HTT mutation carriers to determine that white-matter atrophy occurs far earlier than clinical onset in HD using Diffusion-weighted Nuclear Magnetic Resonance (N spectroscopy (DWS) and Diffusion Tensor Imaging (DTI).

The investigators will recruit up to 20 premanifest HTT mutation carriers (15 completed) and up to 20 non HTT mutation carriers (15 completed). It is important to have those 2 populations in order to compare our results and determine if there are significant white-matter changes far from the onset of HD. Therefore, non HTT mutation carriers will be age and gender matched to premanifest HTT mutation carriers.

In order to test the hypothesis, the study has 2 visits with a year interval.

This study is based on 4 principal criteria:

1. Imaging criteria
2. Clinical and neurological criteria
3. Psychological criteria
4. Behavioral criteria

Enrollment: 60 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

• For presymptomatic individuals:

  • Genetic test available with CAG (Cytosine-Adenine-Guanine) repeat length > 36 in HTT gene
  • UHDRS score <5
  • Burden score <250

• For controls:

  • Genetic test available with CAG repeat length ≤ 36 in HTT gene

• Common inclusion criteria for presymptomatic individuals and controls (age-matched and gender-matched with presymptomatic individuals and but without any familial relationship):

  • At least 18 years of age
  • Capacity to consent
  • Signature of the informed consent
  • Covered by social security
  • Ability to undergo MRI scanning

Non-Inclusion Criteria:

• Under the age of 18 years of age
• Contra-indications to MRI examination (metallic implant, pacemaker, artificial heart valve, brain vascular malformation, aneurysm clips, exposed by metallic fragments, artificial implants, peripheral or neuronal stimulator, insulin pump, intravenous catheter, epilepsy, person with an history of seizure, metallic contraceptive device, permanent eyelid make up, claustrophobia,...)
• Unwillingness to be informed in case of abnormal MRI (with a significant medical anomaly)
• History of severe head injury
• History of neurological disorder or presence of neurological disorder
• Participation in a drug trial or exclusion period of another study
• Pregnancy or breastfeeding
• Inability to understand information about the protocol
• Person deprived of their liberty by judicial or administrative decision
• Person under legal protection (legal guardianship, tutelage or maintenance of justice)
• Person without any protection and unable to consent

Trial design

Primary purpose: Other

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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60 participants in 2 patient groups

Premanifest HTT mutation carriers

Other group

Treatment:

Behavioral: Behavioural assessments

Behavioral: Psychological assessments

Other: Neurological assessments

Other: Brain imaging

non HTT mutation carriers

Other group

Treatment:

Behavioral: Behavioural assessments

Behavioral: Psychological assessments

Other: Neurological assessments

Other: Brain imaging