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NCT Number: NCT00682513

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

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.

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Dystonia Alternating hemiplegia of childhood Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Dyskinesias Dystonia 12 Movement Disorders Nervous System Diseases Neurologic Manifestations Parkinsonian Disorders Parkinsonism Pathological Conditions, Signs and Symptoms Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Miami, Miami, Florida, United States

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • none

Treatment and study plan

Primary outcomes

  1. RDP Severity

    Time frame: Visit 1 (baseline)

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

Secondary outcomes

  1. Presence of neuropsychiatric disease

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

    Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.

Sponsors and collaborators

Lead sponsor

State University of New York at Buffalo

Other

Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

Registry information

Official study title

Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3

Important dates

Study start
2008
Primary completion
2027
Study completion
2027
First posted
May 22, 2008
Registry last updated
May 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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