DystoniaNCT00682513
Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
An observational study of Dystonia and Parkinsonism, run by State University of New York at Buffalo at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Dystonia, Parkinsonism
- How many people
- 198 participants
- Where
- 2 sitesUnited States
- Study dates
- Apr 2008to 31 Jul 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC
Who cannot join
- none
Trial locations and contacts
2 sites in 1 country.
United States2 sites
University at Buffalo
Buffalo, New York, 14203
University of Miami
Miami, Florida, 33136
About this study
Official title: Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
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.
Read the 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.
- Conditions
- Dystonia, Parkinsonism
- Keywords
- dystonia, parkinsonism, rapid-onset dystonia-parkinsonism, RDP, Alternating Hemiplegia of Childhood, AHC
- Medical subject headings
- Dystonia, Parkinsonian Disorders, Dystonia 12, Alternating hemiplegia of childhood
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| ATP1A3 Mutation | Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members |
What is being measured
The primary outcome is the main question the study is designed to answer.
RDP Severity
History of symptom onset and duration will be obtained and current degree of severity assessed.
Measured: Visit 1 (baseline)
Secondary outcomes (1)
Presence of neuropsychiatric disease
Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.
Measured: Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2008 (estimated)
- Study startApr 2008
- Primary completion31 Jul 2027 (estimated)
- Study completion31 Jul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for DystoniaStudies of the same condition, open and under way.
- More trials run by State University of New York at BuffaloThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 198 participants (estimated)
Sponsor and investigators
- Lead sponsor
- State University of New York at Buffalo
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Allison Brashear, MD, MBA, State University of New York at Buffalo
- Investigators
- Allison Brashear, MD, Principal investigator, Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00682513
- Sponsor's protocol ID
- 1688159
- Other IDs
- BG05-556, 1R01NS058949-01A1, IRB00007686, 1704511
- Status last verified
- Oct 2026
- First submitted
- 20 May 2008
- Last updated
- 3 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 24436111Brashear 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.
PubMed 22924536
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
- ClinicalTrials.gov ID
- NCT00682513
- Acronym / sponsor ID
- 1688159
- Conditions
- Dystonia, Parkinsonism
- Keywords
- dystonia, parkinsonism, rapid-onset dystonia-parkinsonism, RDP, Alternating Hemiplegia of Childhood, AHC
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 198 participants (estimated)
- Lead sponsor
- State University of New York at BuffaloUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Apr 2008
- Primary completion
- 31 Jul 2027 (estimated)
- Study completion
- 31 Jul 2027 (estimated)
- First posted
- 22 May 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| ATP1A3 Mutation | – | –Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
RDP Severity
Time frame: Visit 1 (baseline)
History of symptom onset and duration will be obtained and current degree of severity assessed.
1 secondary outcome
Presence of neuropsychiatric disease
Time frame: Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Nov 2026.
- Derived from this study: PubMed 24436111Cook 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.
- Derived from this study: PubMed 22924536Brashear 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.
- ATP1A3 diseases study websiteLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Allison Brashear, MD principal investigator
Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dystonia and Parkinsonism, run by State University of New York at Buffalo at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 3 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
RDP Severity (time frame: Visit 1 (baseline)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00682513, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Nov 2026.