Dentatorubral-Pallidoluysian AtrophyPhase 1/2NCT06706388
Personalized Antisense Oligonucleotide Therapy for A Single Participant With ATN1 Gene Mutation
A Phase 1/2 study testing nL-ATN1-002 in people with Dentatorubral-Pallidoluysian Atrophy, run by n-Lorem Foundation at 1 site in United States.
Trial summary
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1 Read more about this study
- Who is it for?
- Ages 17 to 17 years, men only
- Conditions the study is for
- Dentatorubral-Pallidoluysian Atrophy
- What is being tested?
- nL-ATN1-002
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Feb 2024to Feb 2027
- Phase
- Phase 1/2
- 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 17 to 17 years
- Men only
- No healthy volunteers
- Child
Who may be able to join
- Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
- Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation
Who cannot join
- Use of investigational medication within 5 half-lives of the drug at enrolment
- Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
Read the detailed description
This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with DRPLA due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
- Conditions
- Dentatorubral-Pallidoluysian Atrophy
- Being tested
- nL-ATN1-002
- Medical subject headings
- Myoclonic Epilepsies, Progressive
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
nL-ATN1-002Drug
Personalized antisense oligonucleotide
| Study group | Role | What they receive |
|---|---|---|
| Open Label | Experimental | Not described Receives: Drug: nL-ATN1-002 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Ataxia
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Scale for Assessment and Rating of Ataxia (SARA).
Measured: Baseline to 24 months
Ataxia
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by wrist/ankle accelerometers (peak velocity, peak acceleration, movement entropy).
Measured: Baseline to 24 months
Ataxia
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by home gait video assessment (reviewed by blinded rater using gait and stance rating criteria from the SARA).
Measured: Baseline to 24 months
Secondary outcomes (6)
Seizures
Change in seizure frequency and length of seizures, as well as seizure medication use, from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by caregiver seizure diary tracking.
Measured: Baseline to 24 months
Quality of Life
Change in quality of life from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Activities of Daily Living questionnaire (ADL).
Measured: Baseline to 24 months
Quality of Life
Change in quality of life from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Caregiver Global Impression of Change questionnaire (CGI-C).
Measured: Baseline to 24 months
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]
Measured: Baseline to 24 months
Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and tolerability]
Measured: Baseline to 24 months
Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and tolerability]
Measured: Baseline to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Nov 2024
- Study start21 Feb 2024
- Primary completionFeb 2027 (estimated)
- Study completionFeb 2027 (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.
- 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
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- n-Lorem Foundation
- Sponsor type
- University, hospital or other
- Collaborators
- Columbia University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06706388
- Sponsor's protocol ID
- AAAV0657
- Status last verified
- Apr 2026
- First submitted
- 21 Nov 2024
- Last updated
- 9 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Gene Mutation
- ClinicalTrials.gov ID
- NCT06706388
- Acronym / sponsor ID
- AAAV0657
- Conditions
- Dentatorubral-Pallidoluysian Atrophy
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 1 participants (actual)
- Lead sponsor
- n-Lorem FoundationUniversity, hospital or other
- Collaborators
- Columbia University
- Study start
- 21 Feb 2024 (actual)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 26 Nov 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.
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
Detailed description
This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with DRPLA due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open Label | Experimental | Drug: nL-ATN1-002 |
Who may qualify
- Ages
- 17 to 17 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
- Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation
Key exclusion criteria (2 listed)
- Use of investigational medication within 5 half-lives of the drug at enrolment
- Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
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 |
|---|---|---|
| nL-ATN1-002Personalized antisense oligonucleotide | Drug | Open Label |
Primary outcome
Ataxia
Time frame: Baseline to 24 months
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Scale for Assessment and Rating of Ataxia (SARA).
Ataxia
Time frame: Baseline to 24 months
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by wrist/ankle accelerometers (peak velocity, peak acceleration, movement entropy).
Ataxia
Time frame: Baseline to 24 months
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by home gait video assessment (reviewed by blinded rater using gait and stance rating criteria from the SARA).
6 secondary outcomes
Seizures
Time frame: Baseline to 24 months
Quality of Life
Time frame: Baseline to 24 months
Quality of Life
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and tolerability]
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and tolerability]
Time frame: Baseline to 24 months
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 9 Apr 2026.
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing nL-ATN1-002 in people with Dentatorubral-Pallidoluysian Atrophy, run by n-Lorem Foundation 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 3 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: under way, not looking for participants, as of the sponsor's last update on 9 Apr 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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ataxia (time frame: Baseline to 24 months). 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 9 Apr 2026.