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Trial record 1 of 3 for:    "Juvenile Huntington disease"
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Growth and Development of the Striatum in Huntington's Disease (Kids-HD)

This study is currently recruiting participants.
Verified May 2017 by Peggy C Nopoulos, University of Iowa
Sponsor:
ClinicalTrials.gov Identifier:
NCT01860339
First Posted: May 22, 2013
Last Update Posted: June 1, 2017
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborators:
CHDI Foundation, Inc.
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Peggy C Nopoulos, University of Iowa
  Purpose

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 6-18) 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, physical and neurologic evaluation, behavioral assessment, and quantitative craniofacial structure assessment. Subjects that are gene-expanded (GE) will be compared to subjects who are gene non-expanded (GNE) and as well to matched healthy controls. Changes in brain structure and/or function in the GE group, compared to both GNE and control groups, would lend support to the notion that this disease has an important developmental component.


Condition
Huntington's Disease

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Growth and Development of the Striatum in Huntington's Disease

Resource links provided by NLM:


Further study details as provided by Peggy C Nopoulos, University of Iowa:

Primary Outcome Measures:
  • Volume of brain structures as measured by Magnetic Resonance Imaging (MRI) [ Time Frame: 6-7 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, all in consideration of age, gender, and height. Results will be evaluated for comparative differences between the GE group, the GNE group, and the healthy control 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.


Secondary Outcome Measures:
  • Quantitative assessment of cognitive skills and motor skills [ Time Frame: 6-7 hour testing day ]
    Participants undergo a cognitive battery which will quantify skills such as attention, learning, memory. In addition, motor skill (both fine and gross) will be assessed and quantified. Results will be analyzed for comparative differences between the GE group, the GNE group, and the healthy control 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.


Biospecimen Retention:   Samples With DNA

Biospecimens are collected and retained for both case and control participants for genetic testing purposes. Specimens are either a single sample of 1-2 teaspoons of blood drawn from the arm or 1 teaspoon of saliva via collection device.

Biospecimens will be tested for the number of CAG repeats in the Huntingtin Gene. Each sample obtained will be coded with a randomly assigned number and never linked with personal identifiers. The results from the genetic analysis will be sent directly to the data manager on the project, who is the ONLY research member with access to this data. This person has no direct contact with study participants.


Estimated Enrollment: 400
Study Start Date: July 2005
Estimated Primary Completion Date: August 2018 (Final data collection date for primary outcome measure)
Groups/Cohorts
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
Healthy Controls (HC)
Healthy children with no medical or psychiatric disorder and no history of HD in their family
Case Parent
Parent of participant at risk for Huntington Disease
Control Parent
Parent of healthy control participant

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Young people ages 6-18 years old who have a parent or grandparent that has been diagnosed with Huntington's Disease
Criteria

Inclusion Criteria:

  • Family history of Huntington's Disease
  • Age 6-18 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)
  Contacts and Locations
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): NCT01860339


Contacts
Contact: Study Staff 866-514-0858 kids-hd@uiowa.edu
Contact: Sonia K Slevinski, MS 319-353-8529 sonia-slevinski@uiowa.edu

Locations
United States, Iowa
University of Iowa Hospitals and Clinics, Department of Psychiatry Recruiting
Iowa City, Iowa, United States, 52242
Sponsors and Collaborators
Peggy C Nopoulos
CHDI Foundation, Inc.
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Peggy C Nopoulos, MD University of Iowa
  More Information

Additional Information:
Responsible Party: Peggy C Nopoulos, Professor, University of Iowa
ClinicalTrials.gov Identifier: NCT01860339     History of Changes
Other Study ID Numbers: 200507759
4R01NS055903-08 ( U.S. NIH Grant/Contract )
First Submitted: May 16, 2013
First Posted: May 22, 2013
Last Update Posted: June 1, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Aggregate, de-identified data may be shared with approved collaborators, but individual participant data will not be shared.

Keywords provided by Peggy C Nopoulos, University of Iowa:
Huntington's Disease
HD
Huntington Disease
Juvenile Huntington's Disease
JHD

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