Clinical trial NCT04406636: Natural History Study in Huntington Disease Gene Expansion Carriers (HDGECs) - SHIELD HD
Official title: Natural History Study in Prodromal and Manifest Huntington Disease Gene Expansion Carriers (HDGECs) - SHIELD HD
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Huntington Disease
Keywords: HD
Lead sponsor: CHDI Foundation, Inc.
Sponsor class: OTHER
Collaborators: name: Medpace, Inc.
First posted: 2020-05-28
Enrollment: 70
Sex: ALL
Minimum age (years): 18
Maximum age (years): 63
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Huntington disease (HD), genetically confirmed by direct DNA testing, either obtained previously or performed at Screening

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.

Eligibility 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

Primary outcomes:
measure: DDR gene expression
timeFrame: 2 years
Secondary outcomes:
measure: Compare rates of change in biomarkers for disease progression
timeFrame: 2 years
Other outcomes:
measure: Additional biomarkers to be examined
timeFrame: 2 years
Locations:
city: San Diego
country: United States
facility: University of California, San Diego (UCSD)
state: California
city: Englewood
country: United States
facility: Rocky Mountain Movement Disorders Center
state: Colorado
city: Boston
country: United States
facility: Beth Israel Deaconess
state: Massachusetts
city: New York
country: United States
facility: Columbia University
state: New York
city: Spokane
country: United States
facility: Inland Northwest Research
state: Washington
city: Toronto
country: Canada
facility: Centre for Movement Disorders
state: Ontario
city: Toronto
country: Canada
facility: North York General Hospital
state: Ontario
city: Paris
country: France
facility: ICM - Institut du Cerveau et de la Moelle épinière
city: Muenster
country: Germany
facility: George-Huntington-Institut (GHI)
city: London
country: United Kingdom
facility: University College London - Institute of Neurology & The National Hospital for Neurology and Neurosurgery
Study officials:
affiliation: Cardiff University
name: Anne Rosser, PhD FRCP
role: PRINCIPAL_INVESTIGATOR
References: