Dystonia Genotype-Phenotype Correlation
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ClinicalTrials.gov Identifier: NCT03428009 |
Recruitment Status :
Recruiting
First Posted : February 9, 2018
Last Update Posted : July 5, 2022
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Condition or disease | Intervention/treatment |
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Dystonia Dystonia; Idiopathic Dystonia, Primary Dystonia, Secondary Dystonia, Familial Dystonia Disorder Dystonias, Sporadic Dystonia; Orofacial Dystonia Lenticularis Dystonia, Paroxysmal Dystonia 6 Dystonia 5 Dystonia 8 Dystonia 9 Dystonia 19 Dystonia 10 Dystonia 11 Dystonia 20 Dystonia 12 Dystonia, Focal Dystonia of Head Dystonia, Diurnal | Other: Magnetic Resonance Imaging |
- Identify a cohort of individuals with known dystonia-related gene mutations, and individuals with idiopathic but presumed-genetic dystonia. Some of these individuals may receive botulinum toxin injections to treat their dystonia per standard of care; in these patients, investigators will image before and after injections to assess for imaging correlates of treatment response.
- Analyze DNA samples from both the dystonia and healthy individual cohorts to detect the presence of mutations and/or polymorphisms in genes associated with dystonia
- Collect systematic clinical information, including Tsui Torticollis, Burke-Fahn-Marsden, Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), Voice Disability Index, Unified Myoclonus Rating Scale, Beck Depression Inventory, Beck Anxiety Inventory and Spielberg Trait Anxiety scales. Scales will be tailored to the type of dystonia, as determined by the clinician referring into the study (i.e., torticollis scales will only be performed on patients with cervical dystonia).
- Use functional MRI (fMRI), diffusion tensor imaging (DTI), and structural MRI to a) analyze brain activity and structure pre- and post-botulinum toxin injections, b) determine how different stages of movement (execution, preparation, sequencing) influence dystonia and the underlying neural mechanisms, c) identify structural abnormalities shared between clinical sub-types of dystonia. As new MR imaging methods are introduced that may improve the investigators ability to identify or distinguish these abnormalities, the investigator will incorporate these novel sequences into the imaging protocol.
- Correlate brain activity and structural data with ratings of dystonia severity, location of dystonia, genetic status, and response to treatment (medications and/or botulinum toxin injections).
- Correlate polymorphism data with dystonia severity, response to botulinum toxin, depression/anxiety severity, and brain activity/structure.
Study Type : | Observational |
Estimated Enrollment : | 200 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes |
Actual Study Start Date : | March 1, 2018 |
Estimated Primary Completion Date : | February 21, 2024 |
Estimated Study Completion Date : | February 21, 2024 |

Group/Cohort | Intervention/treatment |
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Dystonia group
Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.
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Other: Magnetic Resonance Imaging
Study interventions are minimal risk.
Other Names:
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Control Group
Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.
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Other: Magnetic Resonance Imaging
Study interventions are minimal risk.
Other Names:
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- Structural or functional imaging of dystonia and control groups [ Time Frame: 3-5 hours at each study visit ]Identify structural or functional imaging measures that distinguish (a) dystonia patients from matched controls, (b) between clinically-defined forms of dystonia
- Genetic Analysis of dystonia and control groups [ Time Frame: 30 min ]Identify polymorphisms in genes known to cause dystonia that affect the structural or functional imaging measures in dystonia patients and to identify new genes associated with dystonia.
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | 11 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
General Exclusion (both Dystonia and Control groups):
- Metal in any part of the body (including metal injury to the eye) OR carrying a medical device incompatible with MRI (e.g., metal implants such as surgical clips or pacemakers) OR positive screening per UTSW MRI screening form
- Claustrophobia
- Non-fluent English
- Weight incompatible with MRI safety
- History of head trauma with neurological sequelae, including multiple concussions and/or history of stroke
- Pregnancy
- Serious medical illness or history of serious medical illness, including cancer that was treated with radiation or chemotherapy, heart attack, or a known history of HIV-1 + status
- Subjects with Hepatitis C (by Hepatitis C+ titer)
- Subjects with insulin dependent diabetes mellitus (IDDM)
- Severe respiratory compromise
- In the opinion of the investigator, not able to safely participate in this study
Inclusion Criteria:
- Dystonia group
Previous diagnosis of dystonia which include but is not limited to:
- cervical dystonia (50 subjects)
- blepharospasm (25 subjects)
- limb dystonia (50 subjects)
- spasmodic dysphonia (25 subjects)
- segmental dystonia
- multi-focal dystonia
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Any childhood-onset dystonia (25 subjects) Age > 11 years
- Control group:
No prior dystonia diagnosis (175 subjects) Age > 11 years
Exclusion Criteria:
- Dystonia group Prior history of or concurrent neurological or psychiatric diagnosis - depression and/or anxiety accepted Current use of non-dystonia neuroactive medications - SSRI/medication for depression and/or anxiety accepted Current use of cervical brace designed for dystonia treatment Prior structural brain injury
Control group:
History of or current neurological or psychiatric diagnosis - depression and/or anxiety accepted, but must not be in active phase Current use of any neuroactive medication, SSRI/medication for depression and/or anxiety accepted

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03428009
Contact: Jessica Clark | 972.655.4847 | jessica.clark@utsouthwestern.edu | |
Contact: Jeff Waugh, MD, PhD | 214-867-6906 | Jeff.Waugh@UTSouthwestern.edu |
United States, Texas | |
University of Texas Southwestern Medical Center | Recruiting |
Dallas, Texas, United States, 75390 | |
Contact: Jessica Clark jessica.clark@utsouthwestern.edu |
Responsible Party: | Jeff Waugh, MD, PhD, Assistant Professor, University of Texas Southwestern Medical Center |
ClinicalTrials.gov Identifier: | NCT03428009 |
Other Study ID Numbers: |
STU 122017-069 |
First Posted: | February 9, 2018 Key Record Dates |
Last Update Posted: | July 5, 2022 |
Last Verified: | June 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | Data and/or sample collection was specifically for research and subjects indicated that their data could be shared with other scientists. Investigators will only send coded data and/or samples with no identifying information. In addition, all whole blood for DNA samples collected for this protocol will be sent for DNA sequencing and genetic analysis at Massachusetts General Hospital in Dr. Nutan Sharma's lab. In addition at Massachusetts General Tissue Culture Core in the Dystonia Partners Research Biobank investigators will contribute the subject's deidentified DNA sample from this protocol for use in future genetic research regarding dystonia. |
Time Frame: | DNA samples will be stored indefinitely |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Dystonia Control Magnetic Resonance Imagine Genotype Phenotype |
Dystonia Dystonic Disorders Dyskinesias Neurologic Manifestations |
Nervous System Diseases Movement Disorders Central Nervous System Diseases |