Active, not recruitingNo phase
Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
Key facts
- Who runs it
- State University of New York at Buffalo
- Where
- Buffalo and Miami, United StatesSee the 2 sites
- Trial code
- Status
- Active, not recruiting
- People taking part
- 198 people, planned
- Started
- Apr 2008
- Expected to end
- 31 Jul 2027
- Type of study
- Observational
- Record updated
- 3 November 2026
Who can take part
- Age
- 6 years and older
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
Show all 2 criteriaShow less
Who can take part
- clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC
Who cannot take part
- none
Where in United States
- University at BuffaloBuffalo, United StatesNo longer taking part
- University of MiamiMiami, United StatesNo longer taking part
About the trial
What the trial wants to find out
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.
The group in the trial
- ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members
Data and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
- Record updated
- 3 November 2026