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Scientists track rare dystonia to map its genetic roots

NCT ID NCT00682513

Knowledge-focused Sponsor: State University of New York at Buffalo Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is observing up to 198 people with rapid-onset dystonia-parkinsonism (RDP) or related genetic mutations. Researchers aim to identify affected individuals, document how common the disease is, and track its progression over time. Participants undergo assessments of symptom severity and neuropsychiatric health, but no treatment is being tested.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 198 people

The number the study aims to enrol. It can still change while the study runs.

Start date

Apr 2008

Expected to finish

Jul 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC Exclusion Criteria: * none

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Conditions

The condition(s) this trial relates to.

alternating hemiplegia of childhood Dystonia dystonia 12 dystonic disorder parkinsonian disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Dystonia Parkinsonism

Contacts and locations

Locations

  • University at Buffalo

    Buffalo, New York, 14203, United States

  • University of Miami

    Miami, Florida, 33136, United States

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Other studies related to the condition(s) this trial covers.