Dentatorubral-Pallidoluysian AtrophyDRPLA NHBSNCT06273150
Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
An observational study of Dentatorubral-Pallidoluysian Atrophy, run by University College, London at 3 sites in 2 countries.
Trial summary
DRPLA Natural History and Biomarkers Study (DRPLA NHBS) is a prospective observational study that will lay the foundation for clinical trials in DRPLA. The aims of this project are: To characterize the natural history of DRPLA in both juvenile- and adult-onset patients and study different modalities of biomarkers in… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Dentatorubral-Pallidoluysian Atrophy
- What is being tested?
- Positive genetic test for pathological expansion in ATN1
- How many people
- 225 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 1 May 2022to Apr 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Community and/or clinical sample
Who may be able to join
- DRPLA adult participants must be 16 years old or over at the time of enrollment, to participate.
- DRPLA adult participants must have a genetic diagnosis of DRPLA and CAG repeat expansion >35.
- Patient is able to read, understand, and provide written informed consent (signed and dated). If the patient is under the age of 18 or is unable to provide consent, the patient must have a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits, and provide feedback regarding the participant's symptoms and performance as described in the protocol.
- Adult pre-symptomatic subjects must have a positive genetic test for the DRPLA expansion without symptoms compatible with the disease, and be 16 years old or over at the time of enrollment.
- Adult Family/Community control participants must be 16 years old or over at the time of enrollment to participate. Blood-relatives must not have a genetic diagnosis of DRPLA or their genetic status is unknown.
- DRPLA pediatric participants must be under 16 years old at the time of enrollment, to participate.
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- DRPLA pediatric participants must have a genetic diagnosis of DRPLA and CAG repeat expansion >35.
- If the patient is under the age of 18 or is unable to provide consent, the patient must have a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits, and provide feedback regarding the participant's symptoms and performance as described in the protocol.
- Pediatric Family/Community control participants must be under 16 years old at the time of enrollment to participate. Blood-relatives must not have a genetic diagnosis of DRPLA or their genetic status is unknown.
Who cannot join
- Individuals with an ataxia condition other than DRPLA.
- Failure to sign the consent form will result in study exclusion.
- Has any condition or circumstance that, in the opinion of the Investigator, makes the participant unsuitable for enrolment. These may include medical conditions which might affect the measurement of biomarkers.
- Participants will be excluded from the lumbar puncture, and skin biopsy procedures if they have a history of severe allergic or anaphylactic reactions or other adverse reactions to local anesthetics used in the study.
- For family/community controls: those individuals with neurological conditions (other than primary headache disorders) will be excluded.
- Individuals with an ataxia condition other than DRPLA. g. Failure to sign the consent form will result in study exclusion. h. Has any condition or circumstance that, in the opinion of the Investigator, makes the participant unsuitable for enrolment. These may include medical conditions which might affect the measurement of biomarkers.
- Participants will be excluded from the lumbar puncture, and skin biopsy procedures if they have a history of severe allergic or anaphylactic reactions or other adverse reactions to local anesthetics used in the study.
- For family/community controls: those individuals with neurological conditions (other than primary headache disorders) will be excluded.
Trial locations and contacts
3 sites in 2 countries.
Hector Garcia-Moreno contact
3 sites in 2 countries
United States2 sites, 2 recruiting
- Recruiting
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599-7025
Yael Shiloh-Malawsky, 919-966-2528, yaelm@neurology.unc.edu
- Recruiting
NYU Grossman School of Medicine
New York, New York, 10017
Claire Miller, 212-263-4838, Claire.Miller@nyulangone.org
United Kingdom1 site, 1 recruiting
- Recruiting
University College London
London, WC1N 3BG
Paola Giunti, +44 7899974923, p.giunti@ucl.ac.uk
About this study
DRPLA Natural History and Biomarkers Study (DRPLA NHBS) is a prospective observational study that will lay the foundation for clinical trials in DRPLA. The aims of this project are:
- To characterize the natural history of DRPLA in both juvenile- and adult-onset patients and study different modalities of biomarkers in this condition.
- To identify genetic factors and biomarkers that could predict disease progression.
- To provide a platform to support the design and conduct of clinical trials.
Read more
This study has three arms:
- Adult Participants: this arm of the study will require participants to be 16 years old or over to participate.
- Pediatric Participants: this arm of the study will require participants to be under 16 years old to participate.
- Remote Participants: patients that cannot or do not wish to travel to one of the study sites can participate in this arm of the study, irrespective of their age.
Participants will have an annual visit for three years (baseline visit and two follow-up visits, three visits in total). Subjects who complete the whole protocol will be assessed on two consecutive days to reduce patient burden.
This project will allow for a better understanding of DRPLA and its course, and therefore allow for future clinical trials on this condition to be more precisely and effectively conducted.
- Conditions
- Dentatorubral-Pallidoluysian Atrophy
- Being tested
- Positive genetic test for pathological expansion in ATN1
- Keywords
- Dentatorubral-Pallidoluysian Atrophy, Ataxia, Epilepsy, Chorea
- Medical subject headings
- Myoclonic Epilepsies, Progressive, Ataxia, Epilepsy, Chorea
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Positive genetic test for pathological expansion in ATN1Other
Positive genetic test for pathological expansion in ATN1
| Study group | Role | What they receive |
|---|---|---|
| DRPLA-mutation carrier | Subjects with a positive genetic test for a pathological expansion in the ATN1 gene. Receives: Other: Positive genetic test for pathological expansion in ATN1 | |
| Volunteer control | Subjects without neurological conditions (other than primary headache disorders), without a family history of DRPLA or a previous negative genetic test for pathological expansions in the ATN1 gene. Receives: Other: Positive genetic test for pathological expansion in ATN1 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Scale for the assessment and rating of ataxia (SARA)
Progression of ataxia is measured using a validated ataxia scale, SARA. Scores range from 0 (no ataxia) to 40 (most severe ataxia).
Measured: 3 years
Brain atrophy
Brain MRI is used to measure atrophy. Atrophy is expected to be observed in DRPLA patients, and in particular in the brainstem, superior cerebellar peduncle, cerebellum and thalamus.
Measured: 3 years
Neurofilament plasma concentration (NfL)
Blood and CSF samples will be measured for NfL, a brain-derived protein.
Measured: 3 years
Secondary outcomes (7)
Inventory of non-ataxia signs (INAS)
The occurrence of accompanying non-ataxia symptoms is assessed using INAS.
Measured: 3 years
Upper limb function test AIM-S
Hand dexterity and upper limb function is assessed using the AIM-S spoon test.
Measured: 3 years
Redenlab DRPLA specific speech battery
Speech is assessed using the Redenlab software speech battery.
Measured: 3 years
Clinical Assessment of Dysphagia in Neurodegeneration (CADN)
Dysphagia is assessed using the CADN, an assessment of swallowing in neurodegenerative disease.
Measured: 3 years
Tau plasma concentration
Blood and CSF samples will be measured for Tau, a brain-derived protein.
Measured: 3 years
Glial fibrillary acidic protein (GFAP) concentration
Blood and CSF samples will be measured for GFAP, a brain-derived protein.
Measured: 3 years
Ubiquitin carboxyterminal hydrolase L1 (UCH-L1) concentration
Blood and CSF samples will be measured for UCH-L1, a brain-derived protein.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Feb 2024
- Study start1 May 2022
- Primary completionApr 2026 (estimated)
- Study completionApr 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dentatorubral-Pallidoluysian AtrophyStudies of the same condition, open and under way.
- More trials run by University College, LondonThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 225 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Collaborators
- University of North Carolina, Chapel Hill, NYU Langone Health
- Responsible party
- Sponsor
- Investigators
- Paola Giunti, Principal investigator, University College, London
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06273150
- Sponsor's protocol ID
- 142048
- Acronym
- DRPLA NHBS
- Status last verified
- May 2024
- First submitted
- 15 Feb 2024
- Last updated
- 10 May 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Data sharing will be decided upon publication of study results and agreements with other researchers.
Study at a glance
From the registry record, last updated by the sponsor on 10 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
- ClinicalTrials.gov ID
- NCT06273150
- Acronym / sponsor ID
- DRPLA NHBS / 142048
- Conditions
- Dentatorubral-Pallidoluysian Atrophy
- Keywords
- Dentatorubral-Pallidoluysian Atrophy, Ataxia, Epilepsy, Chorea
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 225 participants (estimated)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Collaborators
- University of North Carolina, Chapel Hill, NYU Langone Health
- Study start
- 1 May 2022 (actual)
- Primary completion
- Apr 2026 (estimated)
- Study completion
- Apr 2026 (estimated)
- First posted
- 22 Feb 2024 (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.
DRPLA Natural History and Biomarkers Study (DRPLA NHBS) is a prospective observational study that will lay the foundation for clinical trials in DRPLA. The aims of this project are:
- To characterize the natural history of DRPLA in both juvenile- and adult-onset patients and study different modalities of biomarkers in this condition.
- To identify genetic factors and biomarkers that could predict disease progression.
- To provide a platform to support the design and conduct of clinical trials.
This study has three arms:
- Adult Participants: this arm of the study will require participants to be 16 years old or over to participate.
- Pediatric Participants: this arm of the study will require participants to be under 16 years old to participate.
- Remote Participants: patients that cannot or do not wish to travel to one of the study sites can participate in this arm of the study, irrespective of their age.
Participants will have an annual visit for three years (baseline visit and two follow-up visits, three visits in total). Subjects who complete the whole protocol will be assessed on two consecutive days to reduce patient burden.
This project will allow for a better understanding of DRPLA and its course, and therefore allow for future clinical trials on this condition to be more precisely and effectively conducted.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| DRPLA-mutation carrier | – | Other: Positive genetic test for pathological expansion in ATN1Subjects with a positive genetic test for a pathological expansion in the ATN1 gene. |
| Volunteer control | – | Other: Positive genetic test for pathological expansion in ATN1Subjects without neurological conditions (other than primary headache disorders), without a family history of DRPLA or a previous negative genetic test for pathological expansions in the ATN1 gene. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Community and/or clinical sample
Key inclusion criteria (9 listed)
- DRPLA adult participants must be 16 years old or over at the time of enrollment, to participate.
- DRPLA adult participants must have a genetic diagnosis of DRPLA and CAG repeat expansion >35.
- Patient is able to read, understand, and provide written informed consent (signed and dated). If the patient is under the age of 18 or is unable to provide consent, the patient must have a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits, and provide feedback regarding the participant's symptoms and performance as described in the protocol.
- Adult pre-symptomatic subjects must have a positive genetic test for the DRPLA expansion without symptoms compatible with the disease, and be 16 years old or over at the time of enrollment.
- Adult Family/Community control participants must be 16 years old or over at the time of enrollment to participate. Blood-relatives must not have a genetic diagnosis of DRPLA or their genetic status is unknown.
Key exclusion criteria (8 listed)
- Individuals with an ataxia condition other than DRPLA.
- Failure to sign the consent form will result in study exclusion.
- Has any condition or circumstance that, in the opinion of the Investigator, makes the participant unsuitable for enrolment. These may include medical conditions which might affect the measurement of biomarkers.
- Participants will be excluded from the lumbar puncture, and skin biopsy procedures if they have a history of severe allergic or anaphylactic reactions or other adverse reactions to local anesthetics used in the study.
- For family/community controls: those individuals with neurological conditions (other than primary headache disorders) will be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Positive genetic test for pathological expansion in ATN1Positive genetic test for pathological expansion in ATN1 | Other | DRPLA-mutation carrier, Volunteer control |
Primary outcome
Scale for the assessment and rating of ataxia (SARA)
Time frame: 3 years
Progression of ataxia is measured using a validated ataxia scale, SARA. Scores range from 0 (no ataxia) to 40 (most severe ataxia).
Brain atrophy
Time frame: 3 years
Brain MRI is used to measure atrophy. Atrophy is expected to be observed in DRPLA patients, and in particular in the brainstem, superior cerebellar peduncle, cerebellum and thalamus.
Neurofilament plasma concentration (NfL)
Time frame: 3 years
Blood and CSF samples will be measured for NfL, a brain-derived protein.
7 secondary outcomes
Inventory of non-ataxia signs (INAS)
Time frame: 3 years
Upper limb function test AIM-S
Time frame: 3 years
Redenlab DRPLA specific speech battery
Time frame: 3 years
Clinical Assessment of Dysphagia in Neurodegeneration (CADN)
Time frame: 3 years
Tau plasma concentration
Time frame: 3 years
Glial fibrillary acidic protein (GFAP) concentration
Time frame: 3 years
Ubiquitin carboxyterminal hydrolase L1 (UCH-L1) concentration
Time frame: 3 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 May 2024.
- Individual participant dataSharing planned: Undecided. Data sharing will be decided upon publication of study results and agreements with other researchers.
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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.
Hector Garcia-Moreno contact
Paola Giunti principal investigator
University College, London
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dentatorubral-Pallidoluysian Atrophy, run by University College, London at 3 sites in 2 countries.
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 9 inclusion and 8 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: status not confirmed, as of the sponsor's last update on 10 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, United Kingdom. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Paola Giunti (+44 7899974923, p.giunti@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Scale for the assessment and rating of ataxia (SARA) (time frame: 3 years). The study lists 3 primary outcomes in all. 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 10 May 2024.