Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)

NCT01838018 | Completed

• 1 other identifier: 8777
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to learn whether blood flow in the brain is normal in people with pantothenate kinase-associated neurodegeneration (PKAN). Specifically, preliminary data suggest a region of the brain called the globus pallidus (GP), a key region affected by PKAN, may have reduced blood flow. Standard MRI and perfusion scanning techniques will be used to learn about cerebral blood flow in the globus pallidus and compare it to blood flow in other brain regions as well as to healthy controls.

Conditions

Pantothenate Kinase-associated Neurodegeneration (PKAN)

Keywords

PKAN; brain iron; NBIA; neurodegeneration with brain iron accumulation; Hallervorden Spatz Syndrome

Outcome Measures

Primary Outcomes (1)

• ASL-derived cerebral blood flow(CBF)

  The unit of analyses will be the subject and the primary comparison will be the globus pallidus CBF between PKAN and healthy controls.

  Single MRI

Study Arms (2)

PKAN

This group consists of individuals diagnosed with PKAN using a combination of MRI and PANK2 gene sequencing.

Healthy volunteers

This is a control group of healthy volunteers, matched with the PKAN group for age and sex.

Eligibility Criteria

• Age: 7 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The PKAN group consists of individuals in the United States diagnosed with PKAN.

You may qualify if:

• diagnosis of PKAN confirmed by MRI and gene testing
• able to undergo MRI for approximately 1 hour without sedation

You may not qualify if:

• deep brain stimulators or other conditions that warrant avoidance of a strong magnetic field
• previous reaction to gadolinium (Gd) contrast agent
• acute or chronic kidney dysfunction
• pregnant and/or nursing at time of study

Sponsors & Collaborators

• Susan J. Hayflick: lead
• Oregon Health and Science University: collaborator
• Oregon Clinical and Translational Research Institute: collaborator

Study Sites (1)

Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

Related Links

• Related Info

MeSH Terms

Conditions

Pantothenate Kinase-Associated Neurodegeneration

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuroaxonal Dystrophies; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Susan J Hayflick, MD

  Oregon Health and Science University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor & Chair, Molecular & Medical Genetics

Study Record Dates

• First Submitted: April 18, 2013
• First Posted: April 23, 2013
• Study Start: April 1, 2013
• Primary Completion: October 1, 2017
• Study Completion: January 1, 2018
• Last Updated: May 29, 2018

Record last verified: 2018-05

Locations

US (1)