Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders

• ClinicalTrials.gov Identifier: NCT00682513
• Recruitment Status: Active, not recruiting
• First Posted: May 22, 2008
• Last Update Posted: February 12, 2020
• Sponsor: University of California, Davis
• Collaborator: National Institute of Neurological Disorders and Stroke (NINDS)
• Information provided by (Responsible Party): University of California, Davis

Study Description

Brief Summary:

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.

Condition or disease
Dystonia; Parkinsonism

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.

Study Design

• Study Type: Observational
• Estimated Enrollment: 198 participants
• Observational Model: Family-Based
• Time Perspective: Prospective
• Official Title: Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
• Study Start Date: April 2008
• Estimated Primary Completion Date: April 2020
• Estimated Study Completion Date: April 2020

Groups and Cohorts

Group/Cohort
ATP1A3 Mutation; Those with RDP, AHC, CP, unaffected carriers of ATP1A3 mutations, and non-carrying family members

Outcome Measures

Primary Outcome Measures :

1. RDP Severity [ Time Frame: Visit 1 ]
   Only one study visit required. History of symptom onset and duration will be obtained and current degree of severity assessed.

Secondary Outcome Measures :

1. Presence of neuropsychiatric disease [ Time Frame: Visit 1 ]
   Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.
2. Magnetic Resonance Imaging (MRI) [ Time Frame: Visit 1 ]
   Structural and functional MRI will be performed to characterize components of hypothesized ATP1A3 pathway (cortico-stiato-pallidothalamocortical and cerebello-thalamo-cortical pathways and additional dentatorubral-pallidal and dentate-olivary pathways).

Biospecimen Retention:   Samples With DNA

whole blood, tissue (saliva samples)

Eligibility Criteria

• Ages Eligible for Study: 2 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• 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.

Criteria

Inclusion Criteria:

• clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC, or diagnosis of CP with clinical presentation consistent with ATP1A3 disease

Exclusion Criteria:

• none

Contacts and Locations

Locations

United States, North Carolina

Wake Forest University Health Sciences

Winston-Salem, North Carolina, United States, 27157-1043

Sponsors and Collaborators

University of California, Davis

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

• Principal Investigator: Allison Brashear, MD; Professor and Chair, Department of Neurology, Wake Forest University Health Sciences

More Information

Additional Information:

ATP1A3 diseases study website 

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Cook JF, Hill DF, Snively BM, Boggs N, Suerken CK, Haq I, Stacy M, McCall WV, Ozelius LJ, Sweadner KJ, Brashear A. Cognitive impairment in rapid-onset dystonia-parkinsonism. Mov Disord. 2014 Mar;29(3):344-50. doi: 10.1002/mds.25790. Epub 2014 Jan 16.

Brashear A, Mink JW, Hill DF, Boggs N, McCall WV, Stacy MA, Snively B, Light LS, Sweadner KJ, Ozelius LJ, Morrison L. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012 Nov;54(11):1065-7. doi: 10.1111/j.1469-8749.2012.04421.x. Epub 2012 Aug 28. Review.

• Responsible Party: University of California, Davis
• ClinicalTrials.gov Identifier: NCT00682513
• Other Study ID Numbers: IRB00007686; BG05-556 ( Other Identifier: Wake Forest University School of Medicine ); 1R01NS058949-01A1 ( U.S. NIH Grant/Contract ); IRB00007686 ( Other Identifier: Wake Forest University School of Medicine )
• First Posted: May 22, 2008
• Last Update Posted: February 12, 2020
• Last Verified: February 2020

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University of California, Davis:

dystonia; parkinsonism; rapid-onset dystonia-parkinsonism; RDP; Alternating Hemiplegia of Childhood; AHC

Additional relevant MeSH terms:

Dystonia; Dystonic Disorders; Parkinsonian Disorders; Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Movement Disorders; Central Nervous System Diseases; Basal Ganglia Diseases; Brain Diseases