Dystonia Coalition

Emory University, Atlanta GA

Investigators

Linked publications & trials

Abstract

? DESCRIPTION (provided by applicant): The overall goal of the Dystonia Coalition is to provide strong foundations essential for development of new treatments for the isolated dystonia syndromes, previously known as primary dystonias. These disorders include cervical dystonia (also known as torticollis), blepharospasm and related craniofacial dystonias (sometimes called Meige syndrome), laryngeal dystonia (also known as spasmodic dysphonia), and limb dystonias (e.g., writer's cramp, musician's dystonias, foot dystonia). Also included are various combinations of the isolated dystonias such as segmental and multifocal dystonias, and generalized dystonias affecting much of the body. The lack of knowledge regarding their natural history, the lack of universally accepted diagnostic guidelines, the paucity of universally accepted rating scales to monitor disease progression, and the lack of practical biomarkers and understanding of genetic substrates all have hampered development of new treatments. Rather than address each type of dystonia in separate study protocols, Project 1 has served as a core to centrally collect uniform data elements for all of them, in parallel with a DNA biorepository tht is part of a collaboration with the NINDS Human Genetics Resource at Coriell. Project 1 must be continued because we need additional subjects with the rarest forms of dystonia and because all dystonias evolve very slowly over 3- 20 years making a longer duration of follow-up necessary to obtain a complete picture of the natural history. Projects 2-4 address the development of internationally acceptable and rigorously validated diagnostic criteria and rating tools to measure disease severity for the most common subtypes of dystonia. Project 2 focusing on cervical dystonia and Project 3 focusing on laryngeal dystonia reached recruitment goals during the first funding cycle and final analyses are being completed this year. Project 4 focusing on blepharospasm is introduced here for the new funding cycle. It was modeled after the successful experiences of Projects 2 and 3, with some of the same methods and personnel who conducted Projects 2 and 3. Also during the first funding cycle, we established a Pilot Projects Program and a Career Development (Training) Program, both of which have been very successful and will be continued in the second funding cycle. To facilitate rapid recruitment for all of these projects and to encourage collaboration, the Dystonia Coalition has maintained a unique open-door policy that permits qualified centers to contribute to specific projects according to their special interests and abilities. During its first funding cycle, the Dystonia Coalition's multidisciplinary team started with 14 sites but ultimately engaged 48 sites across North America, Europe, Israel, and Australia. The number of participating Patient Advocacy Groups started at 8 and increased to 17. The scope of collaboration facilitated during our first funding cycle is unprecedented for the dystonia research community, with projects that all provide fundamental tools to enable rigorous clinical trials for desperately needed new treatments.