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Natural History Study in Huntington Disease Gene Expansion Carriers (HDGECs) - SHIELD HD (SHIELD HD)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04406636
Recruitment Status : Active, not recruiting
First Posted : May 28, 2020
Last Update Posted : September 23, 2022
Medpace, Inc.
Information provided by (Responsible Party):
CHDI Foundation, Inc.

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.

Condition or disease
Huntington Disease

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.

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Study Type : Observational
Actual Enrollment : 70 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Study in Prodromal and Manifest Huntington Disease Gene Expansion Carriers (HDGECs) - SHIELD HD
Actual Study Start Date : May 19, 2020
Estimated Primary Completion Date : April 2023
Estimated Study Completion Date : April 2023

Primary Outcome Measures :
  1. DDR gene expression [ Time Frame: 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 Outcome Measures :
  1. Compare rates of change in biomarkers for disease progression [ Time Frame: 2 years ]
    To compare the rates of change for different outcomes and cytosine adenine guanine (CAG) age product (CAP) Scores.

Other Outcome Measures:
  1. Additional biomarkers to be examined [ Time Frame: 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 63 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Huntington disease (HD), genetically confirmed by direct DNA testing, either obtained previously or performed at Screening

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04406636

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United States, California
University of California, San Diego (UCSD)
San Diego, California, United States, 920161
United States, Colorado
Rocky Mountain Movement Disorders Center
Englewood, Colorado, United States, 80113
United States, Massachusetts
Beth Israel Deaconess
Boston, Massachusetts, United States, 02215
United States, New York
Columbia University
New York, New York, United States, 10032
United States, Washington
Inland Northwest Research
Spokane, Washington, United States, 99202
Canada, Ontario
Centre for Movement Disorders
Toronto, Ontario, Canada, M3B 257
North York General Hospital
Toronto, Ontario, Canada
ICM - Institut du Cerveau et de la Moelle épinière
Paris, France, 75013
George-Huntington-Institut (GHI)
Muenster, Germany
United Kingdom
University College London - Institute of Neurology & The National Hospital for Neurology and Neurosurgery
London, United Kingdom
Sponsors and Collaborators
CHDI Foundation, Inc.
Medpace, Inc.
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Principal Investigator: Anne Rosser, PhD FRCP Cardiff University
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Responsible Party: CHDI Foundation, Inc.
ClinicalTrials.gov Identifier: NCT04406636    
Other Study ID Numbers: TTX N1
First Posted: May 28, 2020    Key Record Dates
Last Update Posted: September 23, 2022
Last Verified: September 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by CHDI Foundation, Inc.:
Additional relevant MeSH terms:
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Huntington Disease
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Cognition Disorders
Neurocognitive Disorders
Mental Disorders