DRPLANCT05489393
CureDRPLA Global Patient Registry
An observational study of DRPLA, run by CureDRPLA at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 100 years
- Conditions the study is for
- DRPLA
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Mar 2021to 1 Nov 2031
- How long will I take part?
- 10 Years
- 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 0 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Ataxia conditions other than DRPLA.
- Failure to sign the IFC (and assent form, as needed).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
CureDRPLA
New York, New York, 11231
Silvia Prades, PhD, 718-624-6994, silvia.prades@curedrpla.org
Silvia Prades, PhD
About this study
Official title: CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy (DRPLA)
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.
Read the 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.
- Conditions
- DRPLA
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 |
|---|---|---|
| Individuals with DRPLA | This registry is for people with a diagnosis of Dentatorubral-pallidoluysian atrophy (DRPLA) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient- or caregiver-filled questionnaires
The questionnaires cover information about demographics, diagnosis, medical history, activities of daily living, functional mobility and disease burden.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Aug 2022
- Study start1 Mar 2021
- Primary completion1 Nov 2031 (estimated)
- Study completion1 Nov 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DRPLAStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- CureDRPLA
- Sponsor type
- University, hospital or other
- Collaborators
- Ataxia UK
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05489393
- Sponsor's protocol ID
- CureDRPLA Registry_Version1.0
- Status last verified
- Mar 2026
- First submitted
- 2 Aug 2022
- Last updated
- 17 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy (DRPLA)
- ClinicalTrials.gov ID
- NCT05489393
- Acronym / sponsor ID
- CureDRPLA Registry_Version1.0
- Conditions
- DRPLA
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- CureDRPLAUniversity, hospital or other
- Collaborators
- Ataxia UK
- Study start
- 1 Mar 2021 (actual)
- Primary completion
- 1 Nov 2031 (estimated)
- Study completion
- 1 Nov 2031 (estimated)
- First posted
- 5 Aug 2022 (actual)
- 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 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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with DRPLA | – | –This registry is for people with a diagnosis of Dentatorubral-pallidoluysian atrophy (DRPLA) |
Who may qualify
- Ages
- 0 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (2 listed)
- Ataxia conditions other than DRPLA.
- Failure to sign the IFC (and assent form, as needed).
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
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.
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 17 Mar 2026.
- CureDRPLA Global Patient Registry websiteLink provided by the sponsor.
- Individual participant dataSharing planned: No
Related trials for DRPLA
Active, not recruitingPhase 1/2
Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation
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Active, not recruitingPhase 1/2
Personalized Antisense Oligonucleotide Therapy for A Single Participant With ATN1 Gene Mutation
Dentatorubral-Pallidoluysian Atrophy
Active, not recruitingPhase 1/2
Personalized Antisense Oligonucleotide for A Single Participant (nL62541) With ATN1 Gene Mutation
Dentatorubral-Pallidoluysian Atrophy
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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of DRPLA, run by CureDRPLA at 1 site 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 2 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 17 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient- or caregiver-filled questionnaires (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 17 Mar 2026.