Dystonia Genotype-Phenotype Correlation
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 idiopa
| Condition(s) | Dystonia, Dystonia; Idiopathic, Dystonia, Primary, Dystonia, Secondary, Dystonia, Familial, Dystonia Disorder, Dystonias, Sporadic, Dystonia; Orofacial, Dystonia Lenticularis, Dystonia, Paroxysmal, Dy |
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| Status | Recruiting |
| Study type | Observational |
| 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 re |
| Who can participate | 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 compro |
| Ages | 11 Years |
| Sex | All |
| Accepts healthy volunteers | Yes |
| Lead sponsor | University of Texas Southwestern Medical Center |
| Locations | Dallas, Texas, United States |
| Start date | 2018-03-01 |
| NCT ID | NCT03428009 |
| Official listing | https://clinicaltrials.gov/study/NCT03428009 |