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CureDRPLA Global Patient Registry

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ClinicalTrials.gov Identifier: NCT05489393
Recruitment Status : Recruiting
First Posted : August 5, 2022
Last Update Posted : August 5, 2022
Ataxia UK
Information provided by (Responsible Party):

Brief Summary:

The objective of the CureDRPLA Global Patient Registry is to establish a longitudinal database of patient-reported data on individuals affected with Dentatorubral-pallidoluysian atrophy (DRPLA) from anywhere in the world.

The CureDRPLA Global Patient Registry will address patient needs by:

  • Expanding patient engagement by documenting quality of life outcomes.
  • Providing anonymized data to the DRPLA research community on patient experience with the disease and priorities for treatment.
  • Connecting DRPLA patients with opportunities to participate in clinical research.

Condition or disease

Detailed Description:

The CureDRPLA Global Patient Registry aims to collect data from Dentatorubral-pallidoluysian atrophy (DRPLA) patients worldwide to identify a well-characterized cohort for participation in retrospective and prospective research. Participants will be required to read and sign an IRB-approved informed consent document prior to accessing questionnaires within the Registry. The Registry is solely for patients diagnosed with DRPLA.

After informed consent is given, and assent for those age 12 to the age of consent, participants will be asked to complete a series of questionnaires to include information on demographics, specifics of diagnosis, medical history, research, functional mobility, quality of life, and health economics. Participants will be asked to indicate if they are interested in being contacted by the Registry Coordinator for potential participation in future clinical trials and/or studies. Participants will have the option to withdraw from the Registry at any time, and upon withdrawal, they will no longer be contacted from the Registry for any reason. Data that they have entered will remain part of the Registry, but their identification will not be released for any reason. Active participants in the Registry will receive yearly email reminders to update their questionnaire data to reflect the current status of disease progression.

The Registry is available in English, French, Italian, Japanese, Korean, and Portuguese to encourage DRPLA patients worldwide to register. Participation is completed online, please visit our website for more information https://curedrpla.org/en/global-patient-registry/

The REDCap Cloud platform will serve as the Registry Data Coordinating Center and will manage data entered into a web based electronic data capture (EDC) system that is 21 CFR Part 11 validated, ISO 27001 certified, HIPPA, CDISC, and GDPR compliant.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy (DRPLA)
Actual Study Start Date : March 1, 2021
Estimated Primary Completion Date : November 1, 2031
Estimated Study Completion Date : November 1, 2031

Resource links provided by the National Library of Medicine

Individuals with DRPLA
This registry is for people with a diagnosis of Dentatorubral-pallidoluysian atrophy (DRPLA)

Primary Outcome Measures :
  1. Patient- or caregiver-filled questionnaires [ Time Frame: 1 year ]
    The questionnaires cover information about demographics, diagnosis, medical history, activities of daily living, functional mobility and disease burden.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   0 Years to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

DRPLA is a very rare neurodegenerative disorder that is inherited in a dominant autosomal manner. The atrophin-1 gene (ATN1) is the only gene known to cause DRPLA. ATN1 mutations cause CAG repeat expansions in exon 5, which are typically present at ≤ 35 repeats. DRPLA is caused by a (CAG)n repeat expansion of more than ≥48 tandem copies, resulting in an expanded polyglutamine tract in the atrophin-1 protein.

DRPLA shows a strong ethnic predilection for Asian, particularly Japanese populations. In the Japanese population, DRPLA has been estimated to have an incidence of 2 to 7 per million people.


Inclusion Criteria:

  • Individuals of all ages with a self-reported diagnosis of DRPLA.
  • Understand and sign the informed consent form (IFC). Participants who lack the capacity to consent (e.g. cognitively impaired individuals) will require consent from the legal authorized representative, and the assent of the subject will be obtained to the extent compatible with their capacity. Participants at age 12 to age of consent will require assent along with the consent of their parent or legal guardian.

Exclusion Criteria:

  • Ataxia conditions other than DRPLA.
  • Failure to sign the IFC (and assent form, as needed).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05489393

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United States, New York
CureDRPLA Recruiting
New York, New York, United States, 11231
Contact: Silvia Prades, PhD    718-624-6994    silvia.prades@curedrpla.org   
Principal Investigator: Silvia Prades, PhD         
Sponsors and Collaborators
Ataxia UK
Additional Information:
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Responsible Party: CureDRPLA
ClinicalTrials.gov Identifier: NCT05489393    
Other Study ID Numbers: CureDRPLA Registry_Version1.0
First Posted: August 5, 2022    Key Record Dates
Last Update Posted: August 5, 2022
Last Verified: August 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No