- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01860339
Child to Adult Neurodevelopment in Gene Expanded Huntington's Disease (ChANGE HD)
Growth and Development of Striatal-Cerebellum Circuitry in Subjects at Risk for Huntington's Disease
Huntington's Disease (HD) is an autosomal dominant disease manifested in a triad of cognitive, psychiatric, and motor signs and symptoms. HD is caused by a triplet repeat (CAG)expansion in the gene Huntingtin (HTT). This disease has classically been conceptualized as a neurodegenerative disease. However, recent evidence suggests that abnormal brain development may play an important role in the etiology of HD. Huntingtin (HTT)is expressed during development and through life. In animal studies, the HTT gene has been shown to be vital for brain development. This suggests that a mutant form of HTT (gene-expanded or CAG repeats of 40 and above) would affect normal brain development. In addition, studies in adults who are gene-expanded for HD, but have not yet manifested the illness, (pre-HD subjects) have significant changes in the structure of their brain, even up to 20 years before onset of clinical diagnosis. How far back these changes are evident is unknown. One possibility is that these brain changes are present throughout life, due to changes in brain development,though initially associated with only subtle functional abnormalities.
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 are at risk for developing HD - those who have a parent or grandparent with HD. 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. Subjects that are gene-expanded (GE) will be compared to subjects who are gene non-expanded (GNE). Changes in brain structure and/or function in the GE group compared to the GNE group would lend support to the notion that this disease has an important developmental component.
Study Overview
Status
Conditions
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Study Staff
- Phone Number: 866-514-0858
- Email: change-hd@uiowa.edu
Study Contact Backup
- Name: Sonia K Slevinski, MS
- Phone Number: 319-353-8529
- Email: sonia-slevinski@uiowa.edu
Study Locations
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California
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Sacramento, California, United States, 95817
- Recruiting
- University of California Davis
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Principal Investigator:
- Alexandra Duffy, DO
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Contact:
- Fernando Rodriguez
- Phone Number: 916-734-7706
- Email: farodri@ucdavis.edu
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Iowa
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Iowa City, Iowa, United States, 52242
- Recruiting
- University of Iowa Hospitals and Clinics, Department of Psychiatry
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Contact:
- Keara Turkington, BA
- Phone Number: 866-514-0858
- Email: change-hd@uiowa.edu
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Contact:
- Lauri Jennisch, MS
- Phone Number: 866-514-0858
- Email: change-hd@uiowa.edu
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Principal Investigator:
- Peggy C Nopoulos, MD
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New York
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New York, New York, United States, 10027
- Recruiting
- Columbia University Medical Center
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Principal Investigator:
- Ashwini Rao, EdD
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Contact:
- Mia Parker, BA
- Email: mnp2135@cumc.columbia.edu
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19146
- Recruiting
- Children's Hospital of Philadelphia with the University of Pennsylvania
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Principal Investigator:
- Timothy Roberts, PhD
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Contact:
- Shana Ward, BS
- Phone Number: 267-425-1153
- Email: wardsh@chop.edu
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Tennessee
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Nashville, Tennessee, United States
- Recruiting
- Vanderbilt University Medical Center
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Principal Investigator:
- Daniel Claassen, MD
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Contact:
- Isabelle Taylor, BS
- Phone Number: 615-875-1539
- Email: Isabelle.taylor@vumc.org
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Contact:
- Kelly Watson, PhD
- Phone Number: 615-875-0743
- Email: k.watson@vumc.org
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Texas
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Houston, Texas, United States, 77030
- Recruiting
- University of Texas Health Science Center at Houston
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Principal Investigator:
- Erin Furr Stimming, MD
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Contact:
- Brittany Duncan, BS
- Phone Number: 713-486-3134
- Email: Brittany.J.Duncan@uth.tmc.edu
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Family history of Huntington's Disease
- Age 6-30 years
- Age-appropriate knowledge of HD and personal risk
Exclusion Criteria:
- Metal in body, including braces
- History of head trauma, brain tumor, seizures, epilepsy
- History of major surgery and/or significant ongoing medical issue(s)
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Cross-Sectional
Cohorts and Interventions
Group / Cohort |
---|
Gene-expanded (GE)
Children at risk for HD who have a CAG repeat length of 40 and above.
|
Gene Non-Expanded (GNE)
Children at risk for HD who have a CAG repeat length of 39 or less
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Volume of brain structures as measured by Magnetic Resonance Imaging (MRI)
Time Frame: 1 hour out of 6-7 hour testing day, 3-4 annual visits
|
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, all in consideration of age, gender, and height.
Results will be evaluated for comparative differences between the GE group and the GNE group.
In addition, these measures of brain structure will be paired with corresponding measures of brain function to evaluate brain development based upon growth and performance.
|
1 hour out of 6-7 hour testing day, 3-4 annual visits
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Quantitative assessment of cognitive skills and behavioral factors
Time Frame: 4 hours out of 6-7 hour testing day, 3-4 annual visits
|
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.
Results will be analyzed for comparative differences between the GE group and the GNE group.
In addition, these measures of brain function will be paired with appropriate measures of brain structure to evaluate brain development based upon growth and performance.
|
4 hours out of 6-7 hour testing day, 3-4 annual visits
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Quantitative assessment of motor performance
Time Frame: 1 hour out of 6-7 hour testing day, 3-4 annual visits
|
Motor skill (both fine and gross) will be assessed and quantified via standard UHDRS motor exam and Q-Motor/Q-Cog equipment suite.
Results will be analyzed for comparative differences between the GE group and the GNE group.
In addition, these measures of brain function will be paired with appropriate measures of brain structure to evaluate brain development based upon growth and performance.
|
1 hour out of 6-7 hour testing day, 3-4 annual visits
|
Quantification of Neurofilament Light
Time Frame: 10 minutes for blood draw out of 6-7 hour testing day, 3-4 annual visits
|
Plasma samples will be sent for each visit to University College of London for analysis of NfL, an indicator of neuronal damage, to determine viability as a biomarker for Huntington's Disease.
|
10 minutes for blood draw out of 6-7 hour testing day, 3-4 annual visits
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Peggy C Nopoulos, MD, University of Iowa
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Mental Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurocognitive Disorders
- Genetic Diseases, Inborn
- Basal Ganglia Diseases
- Movement Disorders
- Neurodegenerative Diseases
- Dyskinesias
- Heredodegenerative Disorders, Nervous System
- Dementia
- Cognition Disorders
- Chorea
- Huntington Disease
Other Study ID Numbers
- 200507759
- 2U01NS055903-10 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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