The National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health, is looking for individuals to participate in clinical studies. Participating in clinical trials allows you to play an active role in research on the nature and causes of many disorders of the brain and nervous system, and to possibly help physician-scientists develop future treatments. The information below is designed to help you quickly learn about actively recruiting research studies for which you or someone you know may be eligible.


Objectives To confirm the safety and efficacy of thalamic deep brain stimulation (DBS) targeting the ventralis oralis anterior/ventralis oralis posterior (VOA/VOP) nuclear complex in the treatment of subjects with focal hand dystonia (FHD); and to study the electrophysiologic properties of neurons in the VOA/VOP complex. Deep brain stimulation DBS is FDA approved for Parkinson s disease, Essential tremor, Dystonia (humanitarian exemption), Obsessive- Compulsive disorder (humanitarian exemption) but not for focal hand dystonia. Study population Five adults with focal hand dystonia will be studied. Design This is a pilot study of 5 subjects with severe intractable FHD whose activities of daily living and quality of life are severely impaired. They will be recruited from our clinic and from neurology practices in the DC metro area and the University of Virginia. The subjects will undergo unilateral VOA/VOP DBS implantation, followed by programming to optimal parameters. The subjects will be followed at monthly intervals for 3 months, then every 3 months for 2 years, and then every 6 months until 5 years from the start. The safety of the procedure will be the primary outcome of the study. Efficacy will be assessed in several secondary outcomes, the most important ones being the change in dystonia severity and a quality of life scores. The electrophysiologic features of the motor ventral thalamic neurons will be recorded intraoperatively. Outcome measures Primary -Number and severity of adverse events in the 5-year follow-up period. Secondary - Upper extremity disability sub-score of the Burke-Fahn-Marsden (BFM) scale and Arm Dystonia Disability Scale (ADDS) at baseline and every follow up visit - For subjects with FHD type musician s dystonia: Tubiana and Chamagne scale at every follow up visit - For subjects with FHD type Writer s cramp: Writer s Cramp Impairment Scale - Improvement on patient reported outcomes evaluated by the SF-12 Health Status Survey at baseline and at every follow up visit - Intraoperatory electrophysiologic characteristics of the motor ventral thalamic neurons - Neuropsychological evaluation at baseline, 3 and 12 months post DBS surgery

Eligibility Criteria:

INCLUSION CRITERIA: - FHD diagnosed by a neurologist - BFM disability subscore of 3 or more (score range 0 to 4) or ADDS scale equal to or more than 3. - Patients must score 3 or below on the Tubiana and Chamagne scale or inability to perform at the concert level or patients must score a rating of marked impairment on at least one item, impacting the patient s employment or essential activities on the Writer s Cramp scale of symptoms and function. - Symptoms causing significant impairment in quality of life and daily activities by patient self-assessment and SF12 scale, as reported by subjects. The subjects should be severely impaired in at least one of the following domains: handwriting, typing or playing an instrument. The impairment needs to have affected employment, manifested by substantive change in, or loss of, employment or career of choice. - All patients must have failed at least two trials of botulinum toxin injection treatments. - Women of childbearing age will have to agree to use contraception methods for the first 3 post operative months. EXCLUSION CRITERIA: - Subjects younger than 22 years old. - Subjects with an abnormal MRI of the brain - Subjects with prior brain surgery - Pregnant or nursing women - Presence of a more widespread neurologic syndrome with the dystonia being part of it, and/or dystonia caused by an ongoing etiology, such as tardive dystonia associated with ongoing psychotropic treatment or an inherited neurodegenerative syndrome associated with intractable dystonia - Cognitive impairment on Full Scale Intelligence Quotient (FSIQ) portion of Wechsler Adult Intelligence test, which would render the participant not able to provide informed consent or to comply with the study procedures (FSIQ less than - Dementia as evidenced by formal neuropsychological evaluation and Mattis Dementia Rating Scale-2 (DRS-2) score below 128. - Depressed subjects as determined by the neuropsychology screen, including Beck Depression Inventory (BDI). Subjects scoring above 20 on the BDI will be excluded - Subjects with uncontrolled co-existing medical conditions: uncontrolled systemic hypertension with values above 170/100; active heart disease needing immediate intervention; active respiratory disease needing immediate intervention; uncorrected coagulation abnormalities; any condition that would render thepatient unable to safely cooperate with the surgery and study tests as judged by the screening physician - Presence of a contraindication to undergo a brain MRI - Subjects with implanted drug pumps, pacemakers, defibrillators,neurostimulators, metallic implant in head - Subjects who require diathermy - Subjects who require post-op MRIs with full body coil - Subjects with an active systematic infection - Subjects who are immune-compromised - Subjects who are on anticoagulation therapy that would preclude their ability to undergo the implant procedure - Subjects who are allergic or have shown hypersensitivity to any materials of the neurostimulation system which may come in contact with the body - Subjects that cannot appoint a Durable power of attorney (DPA)

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