Huntington Disease
Conditions
Keywords
HD
Brief summary
SHIELD HD is an international, multisite, prospective, longitudinal cohort natural history study to assess the natural history of HD and its biomarkers that are associated with modulation of the number of cytosine-adenine-guanine (CAG) repeats in the mutant Huntingtin (HTT) gene. Approximately 60 patients will be enrolled into the study and followed for up to 24 months at clinical sites in North America and Europe. The results of this study will inform assessments for a future interventional treatment trial.
Detailed description
The rationale for this study is to obtain longitudinal information related to Somatic Instability and DNA damage response genes in HDGECs at various stages of the disease. Established assessments of disease progression will also be recorded.
Interventions
None listed
Sponsors
Medpace, Inc.
CHDI Foundation, Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 63 Years
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria Patients who meet all of the following criteria will be eligible to participate in the study: 1. Capacity to comprehend the study objectives and procedures 2. Documentation of genetically confirmed disease by direct DNA testing, defined as a CAG repeat length ≥39 in the HTT gene 3. Ability to undergo and tolerate MRI scans 4. Ability to tolerate blood draws and lumbar punctures Key
Exclusion criteria
Patients who meet any of the following criteria will be excluded from participation in the study: 1. Any conditions, including severe chorea and dementia, that would prevent either writing or performing pen and paper, tablet, or computer based tasks as determined by the Investigator 2. Treatment with an investigational drug within 30 days prior to screening or within 5 half lives of the investigational drug, whichever is longer 3. History of gene therapy or cell transplantation or any other experimental brain surgery
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| DDR gene expression | 2 years | To assess deoxyribonucleic acid (DNA) damage repair (DDR) gene expression in accessible biofluids and disease trajectories for established and novel biomarkers and clinical outcomes. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Compare rates of change in biomarkers for disease progression | 2 years | To compare the rates of change for different outcomes and cytosine adenine guanine (CAG) age product (CAP) Scores. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Additional biomarkers to be examined | 2 years | The exploratory objectives of this study are to be determined and may include the examination of additional biomarkers present in CSF, plasma, and whole blood, including but not limited to mutant HTT (mHTT) protein, cytokines, and others, as well as clinical markers of progression. |
Countries
Canada, France, Germany, United Kingdom, United States
Outcome results
None listed