Studying Childhood-Onset Hemidystonia

NCT01432899 | Completed

• 2 other identifiers: 11024611-CC-0246
• Study Type: observational
• Target: 21
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Childhood-onset dystonia is caused by a brain injury. It causes muscle contractions and twisting movements that the person with dystonia cannot control. The term hemidystonia is used when only one side of the body is affected. When dystonia starts during childhood, the brain and nerves may not develop normally. People with hemidystonia can become disabled because of the unwanted postures and twisting that dystonia causes. More research is needed to determine how dystonia affects brain development. Objectives: \- To study brain function in people with hemidystonia. Eligibility:

• Individuals between 18 and 40 years of age who developed hemidystonia before age 13. Only one wrist may be affected by hemidystonia, and participants must have at least some movement in that wrist.
• Healthy volunteers at least 18 years of age. Design:
• This study requires five visits to the NIH Clinical Center: a screening visit and four study visits. Each visit will last up to 3 hours. Visits will be scheduled about once a week. The study procedures may be done in any order.
• Participants will be screened with a physical exam and medical history.
• Participants will have the following tests:
• Brain magnetic resonance imaging scan. During the scan, participants will be asked to move their hand at the wrist when they hear a tone.
• Motor tests of arm movement, balance, and walking. These tests may also examine nerve development and muscle tone.
• Two transcranial magnetic stimulation sessions to study the electrical activity of the muscles and brain. These sessions may also involve sensory tests. Participants will have hearing tests before the first session and after the second session.
• No treatment for hemidystonia will be provided as part of this study.

Conditions

Dystonia; Cerebral Palsy

Keywords

Neurophysiology; Hemidystonia; Childhood-onset; Motion Analysis; Neuroimaging; Childhood Onset Hemidystonia; Healthy Volunteer; HV

Outcome Measures

Primary Outcomes (4)

• Sum of wrist, elbow, and shoulder excursion

• Difference between the peak-to-peak amplitude of MEP due to the TS and the CS for SICI.

• Performance accuracy on sterognosis.

• Maximum excursion and Time to largest hand aperture

Secondary Outcomes (1)

• This protocol has 5 Objectives, each with its own primary and secondary objectives. They are too numerous to list.

Eligibility Criteria

• Age: 7 Years - 40 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Age 7 40 years, inclusive
• Good general health, with enough energy to carry out the assessments
• Ability to understand and comply with instructions. Adults must be able to provide their own consent.
• Passive motion of at least 15 degrees extension and 15 degrees flexion from neutral of both wrist joints
• Agreement to not drink caffeine or alcohol for 24 hours before each study session because both agents can modify brain activity and may confound outcome measures.
• \- Childhood-onset (before 13 years of age) hemidystonia in one wrist. Diagnosis of dystonia will be made based on the Hypertonia Assessment Tool (HAT)

You may not qualify if:

• Healthy Volunteers:
• Presence of any neurological disorders
• Individuals with Dystonia:
• Botulinum toxin injection in the flexor carpi radialis and extensor carpi radialis in the last 6 months
• Concurrent use of medicines for muscle tone (e.g., baclofen, trihexyphenedyl, dantrolene sodium, tizanidine, or carbidopa/levodopa). If patients are taking these medications daily, the treating physician will be contacted by the MAI to determine if it is acceptable for the subject to temporarily discontinue the medication(s). If the risk of weaning, or stopping the medication is deemed harmless, the MAI and/or treating physician will determine a schedule to wean, or stop the medication. The goal is for the subject to be off medication(s) for 24 hours prior to participating in testing for this study. For these subjects, there will be at least 4 days between scheduled research visits to avoid a prolonged time off medication(s).
• Seizure in the last 2 years
• Concurrent use of anti-seizure medication
• Hearing loss
• Cardiac pacemakers, implanted medication pumps, intracardiac lines, or acute, unstable cardiac disease, with intracranial implants (e.g. aneurysm clips, shunts, stimulators, cochlear implants, or electrodes) or any other metal object within or near the head, excluding the mouth that cannot be safely removed.
• Inability to lie flat on the back for up to 1 hour
• Uncontrolled movements of the head when lying supine as determined by the MAI
• Discomfort being in small spaces for up to 1 hour
• Cardiac pacemakers, implanted medication pumps, intracardiac lines, or acute, unstable cardiac disease, with intracranial implants (e.g. aneurysm clips, shunts, stimulators, cochlear implants, or electrodes) or any other metal object within or near the head, excluding the mouth that cannot be safely removed.
• Pregnancy: For any female of childbearing potential, a pregnancy test will be done. Childbearing potential will be determined during the history and physical.

Sponsors & Collaborators

• National Institutes of Health Clinical Center (CC): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (4)

• Abbruzzese G, Berardelli A. Sensorimotor integration in movement disorders. Mov Disord. 2003 Mar;18(3):231-240. doi: 10.1002/mds.10327.

  PMID: 12621626 BACKGROUND

• Aertsen AM, Gerstein GL, Habib MK, Palm G. Dynamics of neuronal firing correlation: modulation of "effective connectivity". J Neurophysiol. 1989 May;61(5):900-17. doi: 10.1152/jn.1989.61.5.900.

  PMID: 2723733 BACKGROUND

• Albanese A, Barnes MP, Bhatia KP, Fernandez-Alvarez E, Filippini G, Gasser T, Krauss JK, Newton A, Rektor I, Savoiardo M, Valls-Sole J. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol. 2006 May;13(5):433-44. doi: 10.1111/j.1468-1331.2006.01537.x.

  PMID: 16722965 BACKGROUND

• de Campos AC, Kukke SN, Hallett M, Alter KE, Damiano DL. Characteristics of bilateral hand function in individuals with unilateral dystonia due to perinatal stroke: sensory and motor aspects. J Child Neurol. 2014 May;29(5):623-32. doi: 10.1177/0883073813512523. Epub 2014 Jan 5.

  PMID: 24396131 DERIVED

MeSH Terms

Conditions

Dystonia; Cerebral Palsy

Condition Hierarchy (Ancestors)

Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Brain Damage, Chronic; Brain Diseases; Central Nervous System Diseases

Study Officials

• Diane L Damiano, Ph.D.

  National Institutes of Health Clinical Center (CC)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 10, 2011
• First Posted: September 13, 2011
• Study Start: September 10, 2011
• Study Completion: December 20, 2018
• Last Updated: December 24, 2018

Record last verified: 2018-12-20

Locations

US (1)