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

NCT00682513 | Active Not Recruiting

• 5 other identifiers: 1688159BG05-5561R01NS058949-01A1IRB000076861704511
• Study Type: observational
• Target: 198
• Locations: 1 country
• Sites: 2

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.

Conditions

Dystonia; Parkinsonism

Keywords

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

Outcome Measures

Primary Outcomes (1)

• RDP Severity

  History of symptom onset and duration will be obtained and current degree of severity assessed.

  Visit 1 (baseline)

Secondary Outcomes (1)

• Presence of neuropsychiatric disease

  Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart

Study Arms (1)

ATP1A3 Mutation

Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• none

Sponsors & Collaborators

• State University of New York at Buffalo: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (2)

University of Miami

Miami, Florida, 33136, United States

Location

University at Buffalo

Buffalo, New York, 14203, United States

Location

Related Publications (2)

• 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.

  PMID: 24436111 DERIVED

• 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.

  PMID: 22924536 DERIVED

Related Links

• ATP1A3 diseases study website

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, tissue (saliva samples)

MeSH Terms

Conditions

Dystonia; Parkinsonian Disorders; Dystonia 12; Alternating hemiplegia of childhood

Condition Hierarchy (Ancestors)

Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Movement Disorders

Study Officials

• Allison Brashear, MD

  Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dean, Jacobs School of Medicine and Biomedical Sciences

Study Record Dates

• First Submitted: May 20, 2008
• First Posted: May 22, 2008
• Study Start: April 1, 2008
• Primary Completion (Estimated): July 31, 2027
• Study Completion (Estimated): July 31, 2027
• Last Updated: May 6, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)