DystoniaNCT01432899
Studying Childhood-Onset Hemidystonia
An observational study of Dystonia and Cerebral Palsy, run by National Institutes of Health Clinical Center (CC) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 7 to 40 yearsHealthy volunteers can take part
- Conditions the study is for
- Dystonia, Cerebral Palsy
- How many people
- 21 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Sep 2011to 20 Dec 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 to 40 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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.
- Additional inclusion criteria for individuals with dystonia:
- Childhood-onset (before 13 years of age) hemidystonia in one wrist. Diagnosis of dystonia will be made based on the Hypertonia Assessment Tool (HAT)
Who cannot join
- 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).
- Additional exclusion criteria for TMS:
Show all 16Show fewer
- 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.
- Additional exclusion criteria for MRI:
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Characteristics and Mechanism of Childhood-Onset Hemidystonia
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.
Read more
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.
Read the detailed description
Objective
In childhood-onset hemidystonia, motor and sensory abnormalities pose a great challenge to voluntary movement. In an effort to inform future methods of treatment of this disorder, this study seeks to (1) characterize involuntary muscle activity, (2) explore neurophysiologic mechanisms of involuntary muscle activity, (3) characterize abnormalities of sensation, (4) assess performance on two sensorimotor tasks (voluntary postural control, and a reach-to-grasp arm movement), and (5) explore brain abnormalities using imaging in childhood-onset hemidystonia.
Study Population
The dystonia group will consist of 40 individuals (age 7-40 years) with childhood-onset hemidystonia. The control group will consist of 40 individuals within the same age range with no neurological disorders.
Design
This is a cross-sectional study, in which multiple assessments will be performed over a short period. Results in the dystonia group will be compared to results in the control group. Due to the laterality of brain injury in hemidystonia, outcomes from both arms and cortical hemispheres will be compared to each other. Outcomes within the dystonia group will be correlated with validated dystonia rating scales as well as with the age at the time of injury.
Outcome Measures
In Objective 1, we will analyze the timing of involuntary electromyographic (EMG) activity and kinematics triggered in the dystonic arm during various tasks. In Objective 2, we will investigate various types of intracortical inhibition (short intracortical inhibition, long intracortical inhibition, contralateral silent period, and ipsilateral silent period) and intracortical facilitation in motor cortical regions controlling the dystonic wrist flexor during voluntary contraction of the wrist extensor using transcranial magnetic stimulation (TMS). In addition, we will perform a coherence analysis between EMG activity in the wrist flexor and extensor muscles and between electroencephalographic (EEG) activity in the primary motor cortex and the contralateral wrist muscles. In Objective 3, we will test tactile sense (spatial and temporal), vibration sense, and stereognosis of the hand. In Objective 4, we will analyze seated limits of stability (voluntary postural control), and the timing and amplitude of EMG activity and kinematics in the arm during a reaching and grasping arm movement. In Objective 5, we will obtain brain scans with structural magnetic resonance imaging (MRI), diffusion tensor imaging (DTI), resting state functional connectivity MRI, and functional MRI during a simple task.
- Conditions
- Dystonia, Cerebral Palsy
- Keywords
- Neurophysiology, Hemidystonia, Childhood-onset, Motion Analysis, Neuroimaging, Childhood Onset Hemidystonia, Healthy Volunteer, HV
- Medical subject headings
- Dystonia, Cerebral Palsy
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Sep 2011 (estimated)
- Study start10 Sep 2011
- Study completion20 Dec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for DystoniaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institutes of Health Clinical Center (CC)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Diane L Damiano, Ph.D., Principal investigator, National Institutes of Health Clinical Center (CC)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01432899
- Sponsor's protocol ID
- 110246
- Other IDs
- 11-CC-0246
- Status last verified
- 20 Dec 2018
- First submitted
- 10 Sep 2011
- Last updated
- 24 Dec 2018
- Results posted
- No
Publications
Abbruzzese G, Berardelli A. Sensorimotor integration in movement disorders. Mov Disord. 2003 Mar;18(3):231-240. doi: 10.1002/mds.10327.
PubMed 12621626Aertsen 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.
PubMed 2723733Albanese 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.
PubMed 16722965de 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.
PubMed 24396131
Study at a glance
From the registry record, last updated by the sponsor on 24 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characteristics and Mechanism of Childhood-Onset Hemidystonia
- ClinicalTrials.gov ID
- NCT01432899
- Acronym / sponsor ID
- 110246
- Conditions
- Dystonia, Cerebral Palsy
- Keywords
- Neurophysiology, Hemidystonia, Childhood-onset, Motion Analysis, Neuroimaging, Childhood Onset Hemidystonia, Healthy Volunteer, HV
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 21 participants (actual)
- Lead sponsor
- National Institutes of Health Clinical Center (CC)US National Institutes of Health
- Study start
- 10 Sep 2011
- Study completion
- 20 Dec 2018
- First posted
- 13 Sep 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Objective
In childhood-onset hemidystonia, motor and sensory abnormalities pose a great challenge to voluntary movement. In an effort to inform future methods of treatment of this disorder, this study seeks to (1) characterize involuntary muscle activity, (2) explore neurophysiologic mechanisms of involuntary muscle activity, (3) characterize abnormalities of sensation, (4) assess performance on two sensorimotor tasks (voluntary postural control, and a reach-to-grasp arm movement), and (5) explore brain abnormalities using imaging in childhood-onset hemidystonia.
Study Population
The dystonia group will consist of 40 individuals (age 7-40 years) with childhood-onset hemidystonia. The control group will consist of 40 individuals within the same age range with no neurological disorders.
Design
This is a cross-sectional study, in which multiple assessments will be performed over a short period. Results in the dystonia group will be compared to results in the control group. Due to the laterality of brain injury in hemidystonia, outcomes from both arms and cortical hemispheres will be compared to each other. Outcomes within the dystonia group will be correlated with validated dystonia rating scales as well as with the age at the time of injury.
Outcome Measures
In Objective 1, we will analyze the timing of involuntary electromyographic (EMG) activity and kinematics triggered in the dystonic arm during various tasks. In Objective 2, we will investigate various types of intracortical inhibition (short intracortical inhibition, long intracortical inhibition, contralateral silent period, and ipsilateral silent period) and intracortical facilitation in motor cortical regions controlling the dystonic wrist flexor during voluntary contraction of the wrist extensor using transcranial magnetic stimulation (TMS). In addition, we will perform a coherence analysis between EMG activity in the wrist flexor and extensor muscles and between electroencephalographic (EEG) activity in the primary motor cortex and the contralateral wrist muscles. In Objective 3, we will test tactile sense (spatial and temporal), vibration sense, and stereognosis of the hand. In Objective 4, we will analyze seated limits of stability (voluntary postural control), and the timing and amplitude of EMG activity and kinematics in the arm during a reaching and grasping arm movement. In Objective 5, we will obtain brain scans with structural magnetic resonance imaging (MRI), diffusion tensor imaging (DTI), resting state functional connectivity MRI, and functional MRI during a simple task.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- 7 to 40 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (16 listed)
- -Presence of any neurological disorders
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
1 secondary outcome
This protocol has 5 Objectives, each with its own primary and secondary objectives. They are too numerous to list.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Dec 2018.
- Background: PubMed 12621626Abbruzzese G, Berardelli A. Sensorimotor integration in movement disorders. Mov Disord. 2003 Mar;18(3):231-240. doi: 10.1002/mds.10327.
- Background: PubMed 2723733Aertsen 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.
- Background: PubMed 16722965Albanese 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.
- Derived from this study: PubMed 24396131de 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Diane L Damiano, Ph.D. principal investigator
National Institutes of Health Clinical Center (CC)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dystonia and Cerebral Palsy, run by National Institutes of Health Clinical Center (CC) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 16 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Dec 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sum of wrist, elbow, and shoulder excursion. The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01432899, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Dec 2018; AzTrials last refreshed its copy on 1 Nov 2026.