Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)

Susan J. Hayflick

Status: Completed

Conditions: Pantothenate Kinase-associated Neurodegeneration (PKAN)

Study type: Observational

Funder types: Other

Identifiers

NCT01838018

8777

Details and patient eligibility

About

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.

Enrollment: 10 patients

Sex: All

Ages: 7 to 75 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• 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

Trial design

10 participants in 2 patient groups

PKAN

Description:

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

Healthy volunteers

Description:

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