Longitudinal Assessment of Brain Structure and Function in Juvenile-onset Huntington's Disease

NCT ID: NCT05707663

Last Updated: 2025-12-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-04-17

Study Completion Date

2026-08-31

Brief Summary

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The goal of this observational study is to learn about brain development in Juvenile-onset Huntington's Disease (JoHD). The main questions it aims to answer are:

* Is brain development different in JoHD than Adult-onset Huntington's Disease (AoHD)?
* Can reliable biomarkers for JoHD be found in brain structure and function?

Participants will be asked to complete cognitive tests, behavioral assessments, physical and neurologic evaluation, and MRI. Data collected will be compared to populations who are at-risk for HD and who have been diagnosed with HD as adults.

Detailed Description

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Huntington's disease (HD) is a genetic neurodegenerative disorder caused by an abnormal expansion of a trinucleotide CAG repeat region of the huntingtin gene (HTT). The majority of patients with HD do not present with symptoms until the age of 40-50 years old, on average, which is referred to as Adult-onset HD (AoHD). A much smaller percentage of patients with HD receive a motor diagnosis prior to the age of 21, which is referred to as Juvenile-onset HD (JoHD). Although patients with JoHD have the same core triad of cognitive, behavior, and motor symptoms, there are unique clinical characteristics that are distinct from AoHD. Specifically, patients with JoHD have less chorea compared to patients with AoHD, often presenting with rigidity and bradykinesia. However, due to the rarity, there is a lack of data regarding symptom characterization, neurobiology and progression of JoHD. Large-scale observational studies have been performed in AoHD, which have broadened our understanding of HD and opened the doors for the development and conduct of clinical trials. Patients with JoHD have been excluded from clinical trials, leaving patients and their families feeling hopeless and abandoned by the scientific community. Large-scale, longitudinal studies in patients with JoHD are critical to bettering our understanding of this devastating disease and providing hope to patients who have felt left behind as therapeutic strategies advance in AoHD.

In an effort to better understand the developmental aspects of this brain disease, the current study proposes to evaluate brain structure and function in children, adolescents, and young adults (ages 6-30) who have been diagnosed with JoHD. Brain structure will be evaluating using Magnetic Resonance Imaging (MRI) with quantitative measures of the entire brain, cerebral cortex, as well as white matter integrity via Diffusion Tensor Imaging. Brain function will be assessed by cognitive tests, behavioral assessment, and physical and neurologic evaluation. This study will test the hypothesis that comprehensive and longitudinal assessments of brain function and brain structure may produce reliable biomarkers of disease progression in JoHD.

Conditions

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Juvenile Huntington Disease Juvenile-Onset Huntington Disease

Keywords

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JoHD JHD Juvenile Huntington Disease Juvenile Huntington's Disease Juvenile-onset Huntington Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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JoHD

Children adolescents and young adults ages 6-30 who have been clinically diagnosed with Juvenile-onset Huntington's Disease

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Clinical diagnosis of JoHD
* Aged 6-30

Exclusion Criteria

* Metal in body
* History of head trauma, brain tumor, seizures or epilepsy unrelated to JoHD
* History of major surgery or serious chronic medical conditions other than JoHD
Minimum Eligible Age

6 Years

Maximum Eligible Age

30 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Columbia University

OTHER

Sponsor Role collaborator

University of California, Davis

OTHER

Sponsor Role collaborator

The University of Texas Health Science Center, Houston

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

George-Huntington-Institut GmbH

OTHER

Sponsor Role collaborator

UCL Queen Square Institute of Neurology

OTHER

Sponsor Role collaborator

University of Iowa

OTHER

Sponsor Role lead

Responsible Party

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Peggy C Nopoulos

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Peggy C Nopoulos, MD

Role: PRINCIPAL_INVESTIGATOR

University of Iowa

Locations

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University of California Davis

Sacramento, California, United States

Site Status NOT_YET_RECRUITING

University of Iowa Hospitals and Clinics, Department of Psychiatry

Iowa City, Iowa, United States

Site Status RECRUITING

Columbia University Medical Center

New York, New York, United States

Site Status NOT_YET_RECRUITING

Children's Hospital of Philadelphia with the University of Pennsylvania

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Site Status NOT_YET_RECRUITING

University of Texas Health Science Center at Houston

Houston, Texas, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Study Staff

Role: CONTACT

Phone: 866-514-0858

Email: [email protected]

Sonia Slevinski, MS

Role: CONTACT

Phone: 3193538529

Email: [email protected]

Facility Contacts

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Raj Tsutsui, BS

Role: primary

Keara Turkington, BA

Role: primary

Mia Parker

Role: primary

Shana Ward, BS

Role: primary

Isabelle Taylor, BS

Role: primary

Brittany Duncan, BS

Role: primary

References

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Nopoulos PC. Special Issue: Juvenile Onset Huntington's Disease. Brain Sci. 2020 Sep 20;10(9):652. doi: 10.3390/brainsci10090652.

Reference Type RESULT
PMID: 32962249 (View on PubMed)

Related Links

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Other Identifiers

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201109879

Identifier Type: -

Identifier Source: org_study_id