Autosomal Dominant LeukodystrophyPhase 1/2NCT06816498
Personalized Antisense Oligonucleotide Therapy for A Single Participant With LMNB1 Mutation Associated Autosomal Dominant Leukodystrophy (ADLD)
A Phase 1/2 study testing nL-LMNB1-001 in people with Autosomal Dominant Leukodystrophy, 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 Autosomal Dominant Leukodystrophy (ADLD) due to LMNB1 mutation Read more about this study
- Who is it for?
- Ages 51 to 51 years, men only
- Conditions the study is for
- Autosomal Dominant Leukodystrophy
- What is being tested?
- nL-LMNB1-001
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Mar 2025to Mar 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 51 to 51 years
- Men only
- No healthy volunteers
- Adult
Who may be able to join
- Informed consent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Autosomal dominant adult-onset leukodystrophy (ADLD) caused by an LMNB1 duplication mutation
- 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.
- Willingness to follow contraceptive guidance during the intervention period and for at least 40 weeks after the last dose of study intervention
Who cannot join
- 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 a Patient With LMNB1 Mutation Associated Autosomal Dominant Leukodystrophy (ADLD)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Autosomal Dominant Leukodystrophy (ADLD) due to LMNB1 mutation
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 Autosomal Dominant Leukodystrophy (ADLD) due to LMNB1 mutation
- Conditions
- Autosomal Dominant Leukodystrophy
- Being tested
- nL-LMNB1-001
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
nL-LMNB1-001Drug
Personalized antisense oligonucleotide
| Study group | Role | What they receive |
|---|---|---|
| Open Label | Experimental | Not described Receives: Drug: nL-LMNB1-001 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Gait
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by gait motion analysis
Measured: Baseline to 24 months
Gait
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by 6-minute walk test
Measured: Baseline to 24 months
Gait
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by 25-feet walk test
Measured: Baseline to 24 months
Neurological functioning
Change in neurological functioning results from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by formal neuro-psychological evaluation (abnormalities in cognitive functioning such as memory, visual function, and language function).
Measured: Baseline to 24 months
Brain atrophy
Change in degree of brain atrophy from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by brain MRI
Measured: Baseline to 24 months
Secondary outcomes (8)
Urodynamics
Change from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration in urodynamic study (normal or abnormal bladder activity).
Measured: Baseline to 24 months
Autonomic function
Change from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration in autonomic function as measured by % anhidrosis from thermoregulatory sweat test
Measured: Baseline to 24 months
Autonomic function
Change from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration in autonomic function as measured by Quantitative Axon Reflex Sweat Test sweat output (uL)
Measured: Baseline to 24 months
Autonomic function
Change from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration in autonomic function as measured by supine and standing catecholamines levels
Measured: Baseline to 24 months
Autonomic function
Change from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration in autonomic function as measured by 24-hour ambulatory blood pressure monitoring
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 posted10 Feb 2025
- Study start17 Mar 2025
- Primary completionMar 2027 (estimated)
- Study completionMar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autosomal Dominant LeukodystrophyStudies 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
- Mayo Clinic
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06816498
- Sponsor's protocol ID
- 23-011942
- Status last verified
- Jul 2026
- First submitted
- 28 Jan 2025
- Last updated
- 13 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 13 Jul 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 a Patient With LMNB1 Mutation Associated Autosomal Dominant Leukodystrophy (ADLD)
- ClinicalTrials.gov ID
- NCT06816498
- Acronym / sponsor ID
- 23-011942
- Conditions
- Autosomal Dominant Leukodystrophy
- 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
- Mayo Clinic
- Study start
- 17 Mar 2025 (actual)
- Primary completion
- Mar 2027 (estimated)
- Study completion
- Mar 2027 (estimated)
- First posted
- 10 Feb 2025 (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 Autosomal Dominant Leukodystrophy (ADLD) due to LMNB1 mutation
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 Autosomal Dominant Leukodystrophy (ADLD) due to LMNB1 mutation
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-LMNB1-001 |
Who may qualify
- Ages
- 51 to 51 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (4 listed)
- Informed consent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Autosomal dominant adult-onset leukodystrophy (ADLD) caused by an LMNB1 duplication mutation
- 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.
- Willingness to follow contraceptive guidance during the intervention period and for at least 40 weeks after the last dose of study intervention
Key exclusion criteria (1 listed)
- 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-LMNB1-001Personalized antisense oligonucleotide | Drug | Open Label |
Primary outcome
Gait
Time frame: Baseline to 24 months
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by gait motion analysis
Gait
Time frame: Baseline to 24 months
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by 6-minute walk test
Gait
Time frame: Baseline to 24 months
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by 25-feet walk test
Neurological functioning
Time frame: Baseline to 24 months
Change in neurological functioning results from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by formal neuro-psychological evaluation (abnormalities in cognitive functioning such as memory, visual function, and language function).
Brain atrophy
Time frame: Baseline to 24 months
Change in degree of brain atrophy from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by brain MRI
8 secondary outcomes
Urodynamics
Time frame: Baseline to 24 months
Autonomic function
Time frame: Baseline to 24 months
Autonomic function
Time frame: Baseline to 24 months
Autonomic function
Time frame: Baseline to 24 months
Autonomic function
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 13 Jul 2026.
- Individual participant dataSharing planned: Undecided
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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-LMNB1-001 in people with Autosomal Dominant Leukodystrophy, 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 4 inclusion and 1 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 13 Jul 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?
Gait (time frame: Baseline to 24 months). The study lists 5 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 13 Jul 2026.