Neurodevelopmental Disorder With or Without Variable Brain AbnormalitiesPhase 1/2NCT07197294
Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)
A Phase 1/2 study testing nL-MAPK8-001 in people with Neurodevelopmental Disorder With or Without Variable Brain Abnormalities, 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 Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous pathogenic missense mutation in MAPK8IP3 Read more about this study
- Who is it for?
- Ages 5 to 5 years, men only
- Conditions the study is for
- Neurodevelopmental Disorder With or Without Variable Brain Abnormalities
- What is being tested?
- nL-MAPK8-001
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Feb 2025to 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 5 to 5 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 neurodevelopmental disorder due to MAPK8IP3 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 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA) Due to MAPK8IP3 Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous pathogenic missense mutation in MAPK8IP3
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 NEDBA due to a heterozygous pathogenic missense mutation in MAPK8IP3
- Being tested
- nL-MAPK8-001
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
nL-MAPK8-001Drug
Personalized antisense oligonucleotide
| Study group | Role | What they receive |
|---|---|---|
| Open Label | Experimental | Not described Receives: Drug: nL-MAPK8-001 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Motor Skills
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Measure-88 score.
Measured: Baseline to 24 months
Motor Skills
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Classification Scale (GMFCS) score.
Measured: Baseline to 24 months
Motor Skills
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Manual Ability Classification Scale (MACS) level.
Measured: Baseline to 24 months
Motor Skills
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4) score.
Measured: Baseline to 24 months
Motor Skills
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) score.
Measured: Baseline to 24 months
Motor Skills
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by distance, velocity, acceleration, movement shape, and entropy of movement captured on wrist and ankle accelerometers.
Measured: Baseline to 24 months
Secondary outcomes (10)
Seizure Onset
Change in presence of seizures from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by number of seizures recorded by EEG monitoring.
Measured: Baseline to 24 months
Seizure Onset
Change in presence of seizures from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by changes in caregiver reported seizure tracker.
Measured: Baseline to 24 months
Respiratory Infections
Change in frequency of treatment and hospitalizations for respiratory infection from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by changes in concomitant medications.
Measured: Baseline to 24 months
Respiratory Infections
Change in frequency of treatment and hospitalizations for respiratory infection from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by frequence of adverse events.
Measured: Baseline to 24 months
Sleep Quality
Change in sleep architecture from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured using an actigraphy device to monitor sleep duration.
Measured: Baseline to 24 months
Quality of Life
Change in quality of life from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by Caregiver Global Impression of Change questionnaire (CaGI-C)
Measured: Baseline to 24 months
Safety and Tolerability
Incidence and severity of treatment-emergent adverse events (AEs) from baseline to 12- and 24-months post nL-MAPK8-001 administration
Measured: Baseline to 24 months
Safety and Tolerability
Changes from baseline to 12- and 24-months post nL-MAPK8-001 administration in physical examination (changes in appearance, skin, neck, ears, nose, throat, heart/lungs, abdomen, lymph nodes, and extremities compared to baseline)
Measured: Baseline to 24 months
Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability]
Changes from baseline to 12- and 24-months post nL-MAPK8-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline as assessed by treating physician)
Measured: Baseline to 24 months
Incidence of Treatment Emergent Abnormalities in safety labs (CSF, chemistry, hematology, coagulation, urinalysis) [Safety and Tolerability]
Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis)
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 posted29 Sep 2025
- Study start24 Feb 2025
- 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 Neurodevelopmental Disorder With or Without Variable Brain AbnormalitiesStudies 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
- NCT07197294
- Sponsor's protocol ID
- AAAV6360
- Status last verified
- Jul 2025
- First submitted
- 23 Jul 2025
- Last updated
- 29 Sep 2025
- 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 29 Sep 2025. 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 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA) Due to MAPK8IP3 Mutation
- ClinicalTrials.gov ID
- NCT07197294
- Acronym / sponsor ID
- AAAV6360
- 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
- 24 Feb 2025 (actual)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 29 Sep 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 Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous pathogenic missense mutation in MAPK8IP3
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 NEDBA due to a heterozygous pathogenic missense mutation in MAPK8IP3
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-MAPK8-001 |
Who may qualify
- Ages
- 5 to 5 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 neurodevelopmental disorder due to MAPK8IP3 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-MAPK8-001Personalized antisense oligonucleotide | Drug | Open Label |
Primary outcome
Motor Skills
Time frame: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Measure-88 score.
Motor Skills
Time frame: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Classification Scale (GMFCS) score.
Motor Skills
Time frame: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Manual Ability Classification Scale (MACS) level.
Motor Skills
Time frame: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4) score.
Motor Skills
Time frame: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) score.
Motor Skills
Time frame: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by distance, velocity, acceleration, movement shape, and entropy of movement captured on wrist and ankle accelerometers.
10 secondary outcomes
Seizure Onset
Time frame: Baseline to 24 months
Seizure Onset
Time frame: Baseline to 24 months
Respiratory Infections
Time frame: Baseline to 24 months
Respiratory Infections
Time frame: Baseline to 24 months
Sleep Quality
Time frame: Baseline to 24 months
Quality of Life
Time frame: Baseline to 24 months
Safety and Tolerability
Time frame: Baseline to 24 months
Safety and Tolerability
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability]
Time frame: Baseline to 24 months
Incidence of Treatment Emergent Abnormalities in safety labs (CSF, chemistry, hematology, coagulation, 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 29 Sep 2025.
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-MAPK8-001 in people with Neurodevelopmental Disorder With or Without Variable Brain Abnormalities, 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 29 Sep 2025. 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?
Motor Skills (time frame: Baseline to 24 months). The study lists 6 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 29 Sep 2025.