NCT03042962

Brain Networks in Dystonia

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 141 (estimated)
• Sponsor: Massachusetts Eye and Ear Infirmary · Academic / Other
• Sex: All
• Age: 21 Years – 80 Years
• Healthy volunteers: Accepted

Summary

To date, there is only limited knowledge about the distinct neural abnormalities that lead to the development of different forms of focal dystonia. The goal of this study is to dissect the pathophysiological mechanisms underlying this clinical phenomenon using multi-level brain network analysis in patients with focal dystonia.

Detailed description

Among the many causes of craniofacial disease are focal dystonias such as blepharospasm (BSP) and oromandibular dystonia (OMD), affecting the eyes and jaw, respectively, as well as Meige Syndrome, which combines features of both. Craniofacial dystonias are poorly understood and have limited treatment options. The investigators hypothesize that craniofacial dystonia (CFD) may be caused by both rare and common genetic variants. To identify neural correlates of different genetic causes of CFD, the investigators will perform structural and functional whole-brain imaging and examine the organization of the neural network in these patients compared to healthy individuals and their unaffected blood relatives.

Conditions

• Spasmodic Dysphonia
• Singer's Dystonia
• Writer's Cramp
• Musician's Focal Hand Dystonia
• Craniofacial Dystonia
• Blepharospasm Oromandibular Dystonia

Interventions

Type	Name	Description
OTHER	MRI	Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
PROCEDURE	Blood draw	Blood samples will be collected, the DNA will be extracted and banked for genetic studies

Timeline

• Start date: 2015-08-01
• Primary completion: 2027-12-31
• Completion: 2027-12-31
• First posted: 2017-02-03
• Last updated: 2025-12-08

Locations

1 site across 1 country: United States