Clinical trial NCT02046447: Neuroimaging of Dystonia
Official title: Neuroimaging of Dystonia: The Bachmann-Strauss Dystonia and Parkinson Disease Center of Excellence at the University of Florida
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Primary Cervical Dystonia
DYT 1 Dystonia
Keywords: dystonia
cervical dystonia
DYT1
DYT 1
DYT-1
Dystonia 1
fMRI
healthy
trihexyphenidyl
Artane
Apo-Trihex
Parkin
Pacitane
Benzhexol
Trihex
Lead sponsor: University of Florida
Sponsor class: OTHER
Collaborators: name: Bachmann Strauss Dystonia & Parkinson Foundation, Inc.
First posted: 2014-01-27
Enrollment: 20
Sex: ALL
Minimum age (years): 7
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Qualifying candidates with a diagnosis of DYT 1 dystonia will be identified and invited to participate utilizing an IRB approved database and neurologists review.

Brief summary: The main purpose of this study is to investigate primary cervical dystonia as compared to healthy control subjects and DYT 1 dystonia as compared to healthy control subjects by examining cognitive measures, physical measures, and structural and functional magnetic resonance imaging (MRI).

The secondary aim of this study is to investigate a specific drug therapy for primary cervical dystonia to develop a functional MRI (fMRI) research paradigm. The drug, trihexyphenidyl, is FDA approved to treat Parkinson's Disease and is commonly prescribed by physicians as a treatment for symptoms of primary cervical dystonia.

Detailed description: To participate in this study, you will be asked to come to the University of Florida for one testing day. For your convenience, arrangements will be made by the study coordinator.

If you have a movement disorder, you will be tested in an "off" medication condition. We do not expect concerns or unwanted consequences arising from discontinuing medications for this duration.

We will review the informed consent and you will have the opportunity to ask questions before signing the informed consent. During the experiment, you may be asked to complete the following: (1) questionnaires about quality of life and depression; (2) tests to measure your strength and motor function; (3) tests to measure your cognition; (4) functional and structural MRI scan of your brain while performing a precision gripping task; (5) intravenous blood draw; (6) urine pregnancy test (if applicable); (7) trial of anticholinergic therapy drug trihexyphenidyl (if applicable - cervical dystonia only).

Participants with DYT 1 dystonia and healthy controls are not eligible to receive the trial drug. All women of childbearing potential will be given a urine pregnancy test. The questionnaire about depression will not be given to subjects under the age of 18.

If you have any metal in your eye or eyes, the researchers may require additional screening to ensure that it is safe for you to enter the MRI environment. If additional screening is determined to be necessary, you will be referred to Radiology at Shands UF for an orbitofrontal x-ray.

Blood will be collected for all subjects, including healthy control subjects. The blood may be analyzed, at the University of Florida, to assess potential biomarkers for cervical dystonia and DYT 1 dystonia. Biomarker testing is another way to say genetic testing.

Eligibility criteria: Inclusion Criteria:

* Diagnosis of primary cervical dystonia and between the ages of 18-70, OR
* Diagnosis of DYT 1 dystonia and between the ages of 7-50, OR
* Healthy control and between the ages of 7-70

Exclusion Criteria:

* Neurological impairment from: seizure disorders, stroke, hypertension, heart disease, diabetes, traumatic brain injury (TBI), drug abuse, nerve disorders, dementia, Parkinson's Disease, dementia
* Not a candidate for magnetic resonance imaging (MRI)
* Deep brain stimulation (DBS) surgery
* Any implanted electrical device
* Pregnant or planning pregnancy
* Breastfeeding
* Claustrophobia

Primary outcomes:
measure: Change in cerebral blood flow based on blood-oxygen-level dependent (BOLD) contrast during a precision gripping task
timeFrame: 1 hour
measure: Change in cerebral blood flow based on blood-oxygen-level dependent (BOLD) contrast during a precision gripping task after administration of trihexyphenidyl compared to change in BOLD contrast during a precision gripping task
timeFrame: 2 hours
Secondary outcomes:
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: University of Florida
state: Florida
Study officials:
affiliation: University of Florida
name: David Vaillancourt, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Florida
name: Michael Okun, MD
role: PRINCIPAL_INVESTIGATOR
References: