Recruiting

Observational Study

Sponsor:

State University of New York at Buffalo

Code:

NCT00682513

Conditions

Dystonia

Parkinsonism

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Dystonia

Parkinsonism

Study ID

NCT00682513

Start date

Apr, 2008

Status verified date

Oct, 2026

Completion date

Jul 31, 2027

Anticipated

Primary completion date

Jul 31, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

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

Exclusion Criteria:

  • none

Study Design

Enrollment

198 participants

Anticipated

Interventions and Outcome Measures

Arms

ATP1A3 Mutation

Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members

Primary outcome measure

  • RDP Severity [ Time Frame: Visit 1 (baseline) ]

Central Contacts and Locations

Central contacts

Rebecca Firth, MHA

716-881-7461rsfirth@buffalo.edu

Locations

University of Miami

Recruiting

Miami, Florida, United States, 33136

Contacts

Silvia Vargas, CCRP

(305) 243-3647s.vargasparra@med.miami.edu

Principal Investigator:

Ihtsham Haq, MD

University at Buffalo

Recruiting

Buffalo, New York, United States, 14203

Contacts

Rebecca Firth, MHA

716-881-7461rsfirth@buffalo.edu

More Information

Sponsor

State University of New York at Buffalo

Last update posted

Oct 28, 2026

Last verified

Oct, 2026

Keywords

  • dystonia
  • parkinsonism
  • rapid-onset dystonia-parkinsonism
  • RDP
  • Alternating Hemiplegia of Childhood
  • AHC

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-29. This information was provided to ClinicalTrials.gov by State University of New York at Buffalo on 2026-10-28. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.