Juvenile Huntington DiseaseNCT05707663
Longitudinal Assessment of Brain Structure and Function in Juvenile-onset Huntington's Disease
An observational study of Juvenile Huntington Disease and Juvenile-Onset Huntington Disease, run by University of Iowa at 5 sites in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 4 to 30 years
- Conditions the study is for
- Juvenile Huntington Disease, Juvenile-Onset Huntington Disease
- How many people
- 37 participants
- Where
- 5 sitesUnited States
- Study dates
- 1 Jan 2020to 31 Aug 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children, adolescents and young adults ages 4-30 who have been clinically diagnosed with Juvenile-onset Huntington's Disease
Who may be able to join
- Clinical diagnosis of JoHD
- Aged 4-30
Who cannot join
- 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
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
University of Texas Health Science Center at Houston
Houston, Texas, 77030
University of Iowa Hospitals and Clinics, Department of Psychiatry
Iowa City, Iowa, 52242
Vanderbilt University Medical Center
Nashville, Tennessee, 37232
Children's Hospital of Philadelphia with the University of Pennsylvania
Philadelphia, Pennsylvania, 19146
University of California Davis
Sacramento, California, 95817
About this study
Official title: Longitudinal Assessment of Brain Structure and Function in Juvenile Onset Huntington's Disease (JoHD)
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.
Read the detailed description
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.
- Keywords
- JoHD, JHD, Juvenile Huntington Disease, Juvenile Huntington's Disease, Juvenile-onset Huntington Disease
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| JoHD | Children, adolescents, and young adults ages 4-30 who have been clinically diagnosed with Juvenile-onset Huntington's Disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Volume of brain structures as measured by Magnetic Resonance Imaging (MRI)
Magnetic Resonance Imaging (MRI) and Diffusion Tensor Imaging (DTI) data will be analyzed to assess brain structure based upon variables including global volume, total cerebral spinal fluid, subregion volumes, cortical surface anatomy including cortical depth, surface area and gyral shape, and symmetry between brain hemispheres.
Measured: 60-90 minutes out of 7-8 hour testing day
Secondary outcomes (1)
Quantitative assessment of cognitive skills and behavioral factors
Participants undergo a cognitive battery which will quantify skills such as attention, learning, memory. In addition, behavioral measures will be administered in both self and proxy report formats.
Measured: 5 hours out of 7-8 hour testing day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Feb 2023
- Study start1 Jan 2020
- Primary completion31 Aug 2026 (estimated)
- Study completion31 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Juvenile Huntington DiseaseStudies of the same condition, open and under way.
- More trials run by University of IowaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 37 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Iowa
- Sponsor type
- University, hospital or other
- Collaborators
- Columbia University, University of California, Davis, The University of Texas Health Science Center, Houston, Children's Hospital of Philadelphia, George-Huntington-Institut GmbH, UCL Queen Square Institute of Neurology, National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Principal investigator, Peggy C Nopoulos, University of Iowa
- Investigators
- Peggy C Nopoulos, MD, Principal investigator, University of Iowa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05707663
- Sponsor's protocol ID
- 201109879
- Other IDs
- 2U01NS055903-10
- Status last verified
- Mar 2026
- First submitted
- 16 Dec 2022
- Last updated
- 30 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Aggregate, de-identified data may be shared with approved collaborators, but individual participant data will not be shared.
Publications
Nopoulos PC. Special Issue: Juvenile Onset Huntington's Disease. Brain Sci. 2020 Sep 20;10(9):652. doi: 10.3390/brainsci10090652.
PubMed 32962249
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Assessment of Brain Structure and Function in Juvenile Onset Huntington's Disease (JoHD)
- ClinicalTrials.gov ID
- NCT05707663
- Acronym / sponsor ID
- 201109879
- Keywords
- JoHD, JHD, Juvenile Huntington Disease, Juvenile Huntington's Disease, Juvenile-onset Huntington Disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 37 participants (actual)
- Lead sponsor
- University of IowaUniversity, hospital or other
- Collaborators
- Columbia University, University of California, Davis, The University of Texas Health Science Center, Houston, Children's Hospital of Philadelphia, George-Huntington-Institut GmbH, UCL Queen Square Institute of Neurology, National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 1 Jan 2020 (actual)
- Primary completion
- 31 Aug 2026 (estimated)
- Study completion
- 31 Aug 2026 (estimated)
- First posted
- 1 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| JoHD | – | –Children, adolescents, and young adults ages 4-30 who have been clinically diagnosed with Juvenile-onset Huntington's Disease |
Who may qualify
- Ages
- 4 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children, adolescents and young adults ages 4-30 who have been clinically diagnosed with Juvenile-onset Huntington's Disease
Key inclusion criteria (2 listed)
- Clinical diagnosis of JoHD
- Aged 4-30
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Volume of brain structures as measured by Magnetic Resonance Imaging (MRI)
Time frame: 60-90 minutes out of 7-8 hour testing day
Magnetic Resonance Imaging (MRI) and Diffusion Tensor Imaging (DTI) data will be analyzed to assess brain structure based upon variables including global volume, total cerebral spinal fluid, subregion volumes, cortical surface anatomy including cortical depth, surface area and gyral shape, and symmetry between brain hemispheres.
1 secondary outcome
Quantitative assessment of cognitive skills and behavioral factors
Time frame: 5 hours out of 7-8 hour testing day
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2026.
- Results publication: PubMed 32962249Nopoulos PC. Special Issue: Juvenile Onset Huntington's Disease. Brain Sci. 2020 Sep 20;10(9):652. doi: 10.3390/brainsci10090652.
- Study siteLink provided by the sponsor.
- Study siteLink provided by the sponsor.
- Individual participant dataSharing planned: No. Aggregate, de-identified data may be shared with approved collaborators, but individual participant data will not be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peggy C Nopoulos, MD principal investigator
University of Iowa
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Juvenile Huntington Disease and Juvenile-Onset Huntington Disease, run by University of Iowa at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 30 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Volume of brain structures as measured by Magnetic Resonance Imaging (MRI) (time frame: 60-90 minutes out of 7-8 hour testing day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05707663, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Apr 2026.