NCT03428009

Dystonia Genotype-Phenotype Correlation

Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 200 (estimated)
• Sponsor: University of Texas Southwestern Medical Center · Academic / Other
• Sex: All
• Age: 11 Years
• Healthy volunteers: Accepted

Summary

The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.

Detailed description

1. 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. 2. 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 3. 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). 4. 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. 5. 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). 6. Correlate polymorphism data with dystonia severity, response to botulinum toxin, depression/anxiety severity, and brain activity/structure.

Conditions

• 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

Interventions

Type	Name	Description
OTHER	Magnetic Resonance Imaging	Study interventions are minimal risk.

Timeline

• Start date: 2018-03-01
• Primary completion: 2027-09-01
• Completion: 2027-09-01
• First posted: 2018-02-09
• Last updated: 2025-06-06

Locations

1 site across 1 country: United States