6305: Dystonia Coalition Projects-3 (DCP3): Natural History; Objective Measures; Biobank; Patient-Centered Outcomes
What is Dystonia
Dystonia is characterized by excessive pulling of muscles leading to twisting movements or abnormal postures. Patients with dystonia can have virtually any part of their bodies affected. Patients can be grouped according to which part of the body is affected. Most patients fall into the group of focal dystonias, where a single part of the body is affected.
Some have segmental dystonia, where two or more regions next to each other in the body are affected. A few have generalized dystonia, in which many body regions are affected. There are many potential causes for dystonia. In most patients, a cause cannot be found. Some patients get dystonia because of an inherited predisposition, such as a change in their genes. Other patients get dystonia because of something that happened to them during their lives, such as being exposed to a chemical or infection, having an injury, or engaging in a specific activity. In most patients, experts believe the cause is a combination of inheritance and life events.
What is the Dystonia Coalition
The Dystonia Coalition, a part of the Rare Diseases Clinical Research Network, is an international collaboration of medical researchers and patient advocacy groups with a mission to advance the pace of clinical and translational research in the dystonias to find better treatments and a cure.
What is the purpose of this research?
This research includes four related projects each having different but overlapping goals. The Natural History (NH), Objective Measures (OM), and Biobank (BB) projects go together because they are related. The Patient-Centered Outcomes (PCO) project is optional and depends on the type of dystonia you have and its treatment.
- The aim of the NH Project is to learn more about how dystonia may progress over time and what causes dystonia
- The aim of the OM project is to develop tools to measure the severity of symptoms objectively.
- The aim of the BB project is to create a collection of blood samples for analysis.
- The aim of PCO is to develop an app to measure patient responses to botulinum toxin (BoNT) injections over time.
Who can participate in the NH-OM-BB Projects?
- You must be diagnosed with one of the following isolated dystonias:
- Focal dystonia, including:
a) Cervical dystonia (spasmodic torticollis)
b) Blepharospasm/Meige (craniofacial)
c) Laryngeal dystonia (spasmodic dysphonia)
d) Limb dystonia - Segmental dystonia
- Multifocal dystonia
- Generalized dystonia
- Hemidystonia
- Focal dystonia, including:
- Your last injection of botulinum toxin should be at least 2 months prior to study visit.
Who can participate in the PCO Project?
- You must have one of the isolated focal dystonias including cervical dystonia, blepharospasm, or laryngeal dystonia
- You must be 18 years or older
- You must agree to participate in NH-OM-BB studies
- You must be fluent in English
- You must complete questionnaires on a hand-held device, such as smartphone
What is expected of the participants of NH-OM-BB Projects?
- Answer questions about medical and family history and current state of mind
- Have a neurological exam that will be video recorded
- Donate a blood sample
- Consider coming back every few years for check-up
- Consider spending about 1 hour during each study visit
What is expected of the participants of PCO Project?
- Answer health-related questions on a hand-held electronic device, such as smartphone
- Have a neurological exam that will be video recorded
- Come back for follow-ups approximately 7-8 times over a period of about one year
Total Enrollment: 3573
Participating Sites
Baylor College of Medicine
1 Baylor Plaza
Houston, Texas, United States, 77030
https://www.bcm.edu/
Contact:
Principal Investigator:
Steven
Bellows
Co-Investigator: Joseph Jankovic
Beth Israel Deaconess Medical Center
330 Brookline Avenue
Boston, Massachusetts, United States, 02215
https://www.bidmc.org/
Contact:
Principal Investigator:
Samuel
Frank
Note: Not participating in the Patient-Centered Outcomes Project
Case Western Reserve University
10900 Euclid Avenue
Cleveland, Ohio, United States, 44106
https://case.edu/
Emory University - Administrative Core
101 Woodruff Circle, Suite 6305
Atlanta, Georgia, United States, 30322
https://med.emory.edu/
Contact:
Principal Investigator:
Hyder
Jinnah,
MD, PhD
Program Manager: Gamze Kilic-Berkmen, PhD
1-404-727-3381
Houston Methodist Research Institute
6560 Fannin Street, Suite 1002
Houston, Texas, United States, 77030
https://www.houstonmethodist.org/
Contact:
Principal Investigator:
William
Ondo
Note: Not participating in the Patient-Centered Outcomes Project
Johns Hopkins University
3101 Wyman Park Drive
Baltimore, Maryland, United States, 21218
https://www.jhu.edu/
Contact:
Principal Investigator:
Alexander
Pantelyat
Note: Not participating in the Patient-Centered Outcomes Project
Mount Sinai Beth Israel New York
10 Union Square East, Suite 5G
New York, New York, United States, 10003
https://www.mountsinai.org/
Contact:
Principal Investigator:
Rachel
Saunders-Pullman
Note: Not participating in the Patient-Centered Outcomes Project
Rush University Medical Center
1620 W Harrison Street
Chicago, Illinois, United States, 60612
https://www.rush.edu/
Contact:
Principal Investigator:
Abhimanyu
Mahajan
Sub-Investigator: Mitra Afshari
Toronto Western Hospital
399 Bathurst Street
Toronto, Ontario, Canada, M5T 2S8
https://www.uhn.ca/OurHospitals/TWH
Contact:
Principal Investigator:
Susan
Fox
Study Coordinator: Carlos Ropa
University of Alabama at Birmingham
1720 University Boulevard
Birmingham, Alabama, United States, 35294
https://www.uab.edu/home/
Contact:
Principal Investigator:
Natividad
Stover
Co-Investigator: Aditya Vikram Boddy
Note: Not participating in the Patient-Centered Outcomes Project
University of Calgary
2500 University Drive NW
Calgary, Alberta, Canada, T2N 1N4
https://www.ucalgary.ca/
Contact:
Principal Investigator:
Davide
Martino
Co-Investigator: Justyna Sarna
justyna.sarna@albertahealthservices.ca
Study Coordinator: Mehrafarin Remazani
University of Cincinnati
2600 Clifton Avenue
Cincinnati, Ohio, United States, 45221
https://www.uc.edu/
Contact:
Principal Investigator:
Alberto
Espay
Co-Investigator: Andrew Duker
University of Colorado
1635 Aurora Court, Anschutz Outpatient Pavilion, 4th floor
Aurora, Colorado, United States, 80045
https://www.uchealth.org/
Contact:
Principal Investigator:
Jeanne
Feuerstein
University of Florida
1149 Newell Drive
Gainesville, Florida, United States, 32610-0236
https://neurology.ufl.edu/
Contact:
Principal Investigator:
Aparne
Wagle Shukla
aparna.shukla@neurology.ufl.edu
Co-Investigator: Irene Malaty
University of Iowa
200 Hawkins Drive
Iowa City, Iowa, United States, 52242
https://uihc.org/
Contact:
Principal Investigator:
Christopher
Groth
Sub-Investigator: Ergun Uc
University of Luebeck
Ratzeburger Allee 160
Luebeck, Schleswig-Holstein, Germany, 23562
https://www.uni-luebeck.de/universitaet/universitaet.html
Contact:
Principal Investigator:
Christine
Klein
christine.klein@neuro.uni-luebeck.de
Susanna Langelohsusanna.langeloh@neuro.uni-luebeck.de
Note: Not participating in the Patient-Centered Outcomes Project
University of Maryland Baltimore
620 W Lexington Street
Baltimore, Maryland, United States, 21201
https://www.umaryland.edu/
Contact:
Principal Investigator:
Stephen
Reich
IRB: Christina Griffin
University of New Mexico Health Sciences Center
2500 Marble Avenue NE
Albuquerque, New Mexico, United States, 87106
https://hsc.unm.edu/
Contact:
Principal Investigator:
Sarah
Pirio Richardson
University of Pennsylvania
3400 Civic Center Boulevard
Philadelphia, Pennsylvania, United States, 19104
https://www.upenn.edu/
Contact:
Principal Investigator:
Andres
Deik
andres.deikacostamadiedo@uphs.upenn.edu
Jane ParkNote: Not participating in the Patient-Centered Outcomes Project
University of Utah
175 North Medical Drive East
Salt Lake City, Utah, United States, 84132
https://healthcare.utah.edu/locations/neurosciences/
Contact:
Principal Investigator:
Panagiotis
Kassavetis
Note: Not participating in the Patient-Centered Outcomes Project
Veracity Neuroscience
5050 Poplar Avenue, #511
Memphis, Tennessee, United States, 38137
https://www.memphismovementdisorders.com/
Contact:
Principal Investigator:
Mark
Ledoux
mledoux@veracityneuroscience.com
Susan Skufcasskufca@veracityneuroscience.com
Note: Not participating in the Patient-Centered Outcomes Project
Virginia Commonwealth University
907 Floyd Avenue
Richmond, Virginia, United States, 23284
https://www.vcu.edu/
Contact:
Principal Investigator:
Brian
Berman
Washington University St. Louis
1 Brookings Drive
St. Louis, Missouri, United States, 63130
https://wustl.edu/
Contact:
Principal Investigator:
Joel S.
Perlmutter
Westmead Hospital
Corner of Hawkesbury Road and Darcy Road
Westmead, New South Wales, Australia, NSW 2145
https://www.wslhd.health.nsw.gov.au/Westmead-Hospital
Contact:
Victor
Fung