Child to Adult Neurodevelopment in Gene Expanded Huntington's Disease

Growth and Development of Striatal-Cerebellum Circuitry in Subjects at Risk for Huntington's Disease


Patrocinador principal: Peggy C Nopoulos

Colaborador: National Institute of Neurological Disorders and Stroke (NINDS)

Fuente University of Iowa
Resumen breve

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.

Estado general Recruiting
Fecha de inicio July 2005
Fecha de Terminación August 31, 2024
Fecha de finalización primaria August 31, 2024
Tipo de estudio Observational
Resultado primario
Medida Periodo de tiempo
Volume of brain structures as measured by Magnetic Resonance Imaging (MRI) 1 hour out of 6-7 hour testing day, 3-4 annual visits
Resultado secundario
Medida Periodo de tiempo
Quantitative assessment of cognitive skills and behavioral factors 4 hours out of 6-7 hour testing day, 3-4 annual visits
Inscripción 400

Método de muestreo: Non-Probability Sample


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)

Género: All

Edad mínima: 6 Years

Edad máxima: 30 Years

Voluntarios Saludables: Accepts Healthy Volunteers

Oficial general
Apellido Papel Afiliación
Peggy C Nopoulos, MD Principal Investigator University of Iowa
Contacto general

Apellido: Study Staff

Teléfono: 866-514-0858

Email: [email protected]

Instalaciones: Estado: Contacto: Investigador:
University of California Davis | Sacramento, California, 95817, United States Recruiting Talia Hamm, BA 916-734-6114 [email protected] Alexandra Duffy, DO Principal Investigator
University of Iowa Hospitals and Clinics, Department of Psychiatry | Iowa City, Iowa, 52242, United States Recruiting Salomi Aladia, MA 866-514-0858 [email protected]
Columbia University Medical Center | New York, New York, 10027, United States Recruiting Jennifer Oscherician [email protected] Hiral Shah, MD Principal Investigator
Children's Hospital of Philadelphia with the University of Pennsylvania | Philadelphia, Pennsylvania, 19146, United States Recruiting Jillian Lebus, MA 267-425-1136 51136 [email protected] Timothy Roberts, PhD Principal Investigator
University of Texas Health Science Center at Houston | Houston, Texas, 77030, United States Recruiting Jamie Sims, BS 713-500-7763 [email protected] Erin Furr Stimming, MD Principal Investigator
Ubicacion Paises

United States

Fecha de verificación

January 2020

Fiesta responsable

Tipo: Sponsor-Investigator

Afiliación del investigador: University of Iowa

Nombre completo del investigador: Peggy C Nopoulos

Título del investigador: Professor

Palabras clave
Tiene acceso ampliado No
Condición Examinar
Grupo de brazo

Etiqueta: Gene-expanded (GE)

Descripción: Children at risk for HD who have a CAG repeat length of 40 and above.

Etiqueta: Gene Non-Expanded (GNE)

Descripción: Children at risk for HD who have a CAG repeat length of 39 or less

Acrónimo ChANGE HD
Datos del paciente No
Información de diseño del estudio

Modelo de observación: Case-Control

Perspectiva de tiempo: Cross-Sectional