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Bainbridge-Ropers SyndromePhase 1/2NCT07197268

Personalized Antisense Oligonucleotide Therapy for A Single Participant With ASXL3 Gene Mutation

A Phase 1/2 study testing nL-ASXL3-001 in people with Bainbridge-Ropers Syndrome, run by n-Lorem Foundation at 1 site in United States.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record
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Trial summary

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Bainbridge-Ropers Syndrome (BRPS) due to a pathogenic, de novo nonsense variant in ASXL3 Read more about this study

Who is it for?
Ages 4 to 4 years, men only
Conditions the study is for
Bainbridge-Ropers Syndrome
What is being tested?
nL-ASXL3-001
Could I receive a placebo?
No, everyone receives an active treatment
How many people
1 participants
Where
1 siteUnited States
Study dates
19 May 2025to May 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 4 to 4 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 ASXL3 genetic variant

Who cannot join

  • Participant has any condition that, in the opinion of the Site Investigator, would ultimately prevent the completion of stud procedures

Trial locations and contacts

1 site in 1 country.

United States1 site

  • University of North Carolina Chapel Hill

    Chapel Hill, North Carolina, 27599

Other trials in United States

About this study

Official title: An Open-Label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Bainbridge-Ropers Syndrome Due to ASXL3 Gene Variant

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Bainbridge-Ropers Syndrome (BRPS) due to a pathogenic, de novo nonsense variant in ASXL3

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 BRPS due to a pathogenic, de novo nonsense variant in ASXL3

Being tested
nL-ASXL3-001

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • nL-ASXL3-001Drug

    Personalized antisense oligonucleotide

Study groups in NCT07197268
Study groupRoleWhat they receive
Open LabelExperimentalNot described
Receives: Drug: nL-ASXL3-001

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Safety and Tolerability

    Incidence and severity of treatment-emergent adverse events (AEs) from baseline to 12- and 24-months post nL-ASXL3-001 administration

    Measured: Baseline to 24 months

  2. Safety and Tolerability

    Changes from baseline to 12- and 24-months post nL-ASXL3-001 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

  3. Incidence of Treatment Emergent Abnormalities in Neurological Exam [Safety and Tolerability]

    Changes from baseline to 12- and 24-months post nL-ASXL3-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline)

    Measured: Baseline to 24 months

  4. 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

  5. Motor Skills

    Change in gross motor function from baseline to 12- and 24-months post nL-ASLX3-001 administration as measured by the Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) score.

    Measured: Baseline to 24 months

  6. Motor Skills

    Change in gross motor function from baseline to 12- and 24-months post nL-ASXL-001 administration as measured by the Gross Motor Function Measure (GMFM 88/66)

    Measured: Baseline to 24 months

Secondary outcomes (10)

  1. Feeding Tolerance and Growth

    Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by body mass index (BMI).

    Measured: Baseline to 24 months

  2. Feeding tolerance and growth

    Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by % oral feeding vs G tube reported by parent feeding diary

    Measured: Baseline to 24 months

  3. Feeding tolerance and growth

    Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Functional Oral Intake Score (FOIS)

    Measured: Baseline to 24 months

  4. Feeding Tolerance and Growth

    Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Bristol Stool Scale

    Measured: Baseline to 24 months

  5. Cognition, Communication, and Behavior

    Change in communication from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Vineland Adaptive Behavior Scales - Third Edition (Vineland-3): growth scale values (GSVs) for Expressive Language and Receptive Language subdomains

    Measured: Baseline to 24 months

  6. Cognition, Communication, and Behavior

    Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4): Expressive and Receptive Language Domains and Receptive Language Domains and Cognition Domain

    Measured: Baseline to 24 months

  7. Cognition, Communication, and Behavior

    Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Observer-Related Communication Ability (ORCA) overall T score

    Measured: Baseline to 24 months

  8. Cognition, Communication, and Behavior

    Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Aberrant Behavior Checklist (ABC)

    Measured: Baseline to 24 months

  9. Cognition, Communication, and Behavior

    Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Repetitive Behavior Scale

    Measured: Baseline to 24 months

  10. Quality of Life

    Change in quality of life from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by the Quality-of-Life Inventory - Disability (QI-Disability)

    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.

  1. First posted29 Sep 2025
  2. Study start19 May 2025
  3. Primary completionMay 2027 (estimated)
  4. Study completionMay 2027 (estimated)

Resources

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)
IDs, dates and publications
ClinicalTrials.gov ID
NCT07197268
Sponsor's protocol ID
25-0542
Status last verified
Jul 2025
First submitted
24 Jul 2025
Last updated
29 Sep 2025
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing nL-ASXL3-001 in people with Bainbridge-Ropers Syndrome, 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 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 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?

Safety and Tolerability (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?

On the ClinicalTrials.gov record for NCT07197268.

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.

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