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

• ClinicalTrials.gov Identifier: NCT04406636
• Recruitment Status: Active, not recruiting
• First Posted: May 28, 2020
• Last Update Posted: October 18, 2021
• Sponsor: Triplet Therapeutics, Inc.
• Collaborator: Medpace, Inc.
• Information provided by (Responsible Party): Triplet Therapeutics, Inc.

Study Description

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.

Study Design

• 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: November 2022
• Estimated Study Completion Date: December 2022

Groups and Cohorts

Outcome Measures

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.

Eligibility Criteria

• 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

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

Contacts and Locations

Locations

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

France

ICM - Institut du Cerveau et de la Moelle épinière

Paris, France, 75013

Germany

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

Triplet Therapeutics, Inc.

Medpace, Inc.

Investigators

• Principal Investigator: Anne Rosser, PhD FRCP; Cardiff University

More Information

• Responsible Party: Triplet Therapeutics, Inc.
• ClinicalTrials.gov Identifier: NCT04406636
• Other Study ID Numbers: TTX N1
• First Posted: May 28, 2020
• Last Update Posted: October 18, 2021
• Last Verified: October 2021

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: Undecided

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Triplet Therapeutics, Inc.:

HD

Additional relevant MeSH terms:

Huntington Disease; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Dementia; Chorea; Dyskinesias; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Cognition Disorders; Neurocognitive Disorders; Mental Disorders