Identification, Prevalence, and Lifespan of Rapid-Onset Dystonia-Parkinsonism

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2014 by Wake Forest School of Medicine
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Allison Brashear, Wake Forest School of Medicine Identifier:
First received: May 20, 2008
Last updated: December 8, 2014
Last verified: December 2014
The purposes of this study are to identify persons with rapid-onset dystonia-parkinsonism (RDP) or mutations of the RDP gene, document prevalence of the disease, and map its natural history.


Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3

Resource links provided by NLM:

Further study details as provided by Wake Forest School of Medicine:

Primary Outcome Measures:
  • RDP Severity [ Time Frame: Visit 1 ] [ Designated as safety issue: No ]
    Only one study visit required. History of symptom onset and duration will be obtained and current degree of severity assessed.

Secondary Outcome Measures:
  • Presence of neuropsychiatric disease [ Time Frame: Visit 2 ] [ Designated as safety issue: No ]
    Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.

Biospecimen Retention:   Samples With DNA
whole blood, tissue (saliva samples)

Estimated Enrollment: 130
Study Start Date: April 2008
Estimated Study Completion Date: March 2020
Estimated Primary Completion Date: March 2020 (Final data collection date for primary outcome measure)
Those with RDP, unaffected gene carriers, and non-carrying family members

Detailed Description:

Rapid-onset dystonia-parkinsonism (RDP) is a rare, movement disorder with variable characteristics ranging from sudden onset (hours to days) of severe dystonic spasms to gradual onset of writer's cramp. RDP has elements of both dystonia and Parkinson's disease—two neurological diseases with motor and neuropsychological symptoms that hinder the quality of life. An internal trigger associated with extreme physiological stress has been reported prior to abrupt symptom onset of RDP.

This study, which is a continuation of an earlier study begun by Dr. Allison Brashear, aims to more clearly identify the characteristics associated with RDP and to explore whether mutations in the RDP gene are associated with atypical dystonias, Parkinson's disease, and other movement disorders.

Physicians from around the world who suspect their patients may have RDP or other movement disorders will send videotaped neurological assessments of their patients and blood samples for genetic analysis.


Ages Eligible for Study:   2 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.

Inclusion Criteria:

  • clinical presentation consistent with RDP or confirmed diagnosis of RDP
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00682513

Contact: Jared F Cook, MA 336-716-9007

United States, North Carolina
Wake Forest University Health Sciences Recruiting
Winston-Salem, North Carolina, United States, 27157-1043
Contact: Jared F Cook, MA    336-716-9007   
Principal Investigator: Allison Brashear, MD         
Sponsors and Collaborators
Wake Forest School of Medicine
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Allison Brashear, MD Professor and Chair, Department of Neurology, Wake Forest University Health Sciences
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Allison Brashear, Principle Investigator, Professor and Chair, Wake Forest School of Medicine Identifier: NCT00682513     History of Changes
Other Study ID Numbers: 5R01NS058949-04  BG05-556  1R01NS058949-01A1  IRB00007686 
Study First Received: May 20, 2008
Last Updated: December 8, 2014
Health Authority: United States: Federal Government
United States: Institutional Review Board

Keywords provided by Wake Forest School of Medicine:
rapid-onset dystonia-parkinsonism

Additional relevant MeSH terms:
Parkinsonian Disorders
Dystonic Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Movement Disorders
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms processed this record on May 22, 2016