Clinical trial NCT00682513: Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
Official title: Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Dystonia
Parkinsonism
Keywords: dystonia
parkinsonism
rapid-onset dystonia-parkinsonism
RDP
Alternating Hemiplegia of Childhood
AHC
Lead sponsor: State University of New York at Buffalo
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2008-05-22
Enrollment: 198
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
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.

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.

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.

The study involves in-person or remote (telemedicine) neurological assessments and blood samples for genetic analysis.

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* none

Primary outcomes:
measure: RDP Severity
timeFrame: Visit 1 (baseline)
Secondary outcomes:
measure: Presence of neuropsychiatric disease
timeFrame: Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart
Other outcomes:
Locations:
city: Miami
country: United States
facility: University of Miami
state: Florida
city: Buffalo
country: United States
facility: University at Buffalo
state: New York
Study officials:
affiliation: Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences
name: Allison Brashear, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.