Beta Testing of a New Assessment in Huntington's Disease (HD)

Beta Testing of a New Assessment Protocol for Assessment of Complex Therapies in Huntington's Disease (HD)

Huntington's disease (HD) is an inherited neurodegenerative disease for which there are no existing disease-modifying treatments.

Repair-HD is an EU FP7 consortium that aims to establish all the preclinical requirements for transplantation of stem cell-derived neurons in HD in order to replace those lost to the disease process. These requirements include the generation of new clinical assessments for detailed monitoring of patients with HD who have undergone cell replacement therapy.

This protocol describes the beta testing of a new clinical assessment battery: Core Assessment Protocol for Intrastriatal Transplantation in HD version 2 (CAPIT-HD beta / CAPIT-HD2). CAPIT-HD beta represents a substantial revision of a previous CAPIT-HD battery published over 20 years ago, which is in need of updating in order to accommodate knowledge from clinical transplant studies over this time and to take advantage of technological advances in patient assessment.

HD is a complex disorder in which there is relentless deterioration of motor, cognitive and behavioural functions, usually from mid-life onwards. The original CAPIT battery aimed to capture elements of change in all three domains, but was based predominantly on subjective semi-quantitative assessment tools that have poor inter-rater reliability. Moreover, a number of deficits, such as impairments in social cognition, were not recognised when the original CAPIT-HD battery was constructed, so we have developed novel assessments of these deficits, some of which are included in CAPIT-HD beta. The beta testing will take place in established HD clinical centres in Cardiff, Manchester, Paris, and Munster by teams of researchers who are experienced in leading clinic research in HD. Patients with early to moderate HD will be assessed at baseline, and at one and twelve months later, to assess the reliability and sensitivity of the CAPIT-HD beta battery. Arrangements for data storage and analysis are in place.

1. Patients Inclusion criteria

   • Must be confirmed to carry the HD gene through genetic testing (CAG ≥ 36)
   • Must be 18 years or above
   • Stage I or II disease (TFC staging)

   Exclusion criteria

   • The inability to approve consent
   • Any comorbid condition that has the potential to confound the results of the study

2. Controls Inclusion criteria - Must be 18 years or above

Exclusion criteria

• The inability to approve consent
• Any comorbid condition that has the potential to confound the results of the study