Antisense Oligonucleotide Therapy for Bainbridge-Ropers Syndrome

Age: < 18

Sex: Male

Trial Phase: Phase 1 & 2

Sponsor: n-Lorem Foundation

Disqualifiers: Others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

Duration: 24 months

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new treatment called nL-ASXL3-001, an antisense oligonucleotide therapy, for Bainbridge-Ropers Syndrome, a rare genetic condition. The research aims to determine if this personalized drug can benefit individuals with a specific genetic change in their ASXL3 gene. It targets those diagnosed with this unique genetic variant who can travel to the study site and attend follow-up exams. The goal is to assess the treatment's safety and effectiveness for this particular case. As a Phase 1, Phase 2 trial, participants will be among the first to receive this new treatment and help evaluate its effectiveness in a smaller group.

Do I need to stop my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial team or your doctor.

Is there any evidence suggesting that nL-ASXL3-001 is likely to be safe for humans?

Research shows that treatments like nL-ASXL3-001 are being tested for safety and effectiveness. Although specific safety data for nL-ASXL3-001 is not yet available, the early phase of the trial focuses primarily on safety. Researchers closely monitor participants for any harmful side effects.

These treatments target specific genes, which may reduce the chance of unwanted effects. However, as this is an early-stage trial, detailed safety information is still being collected. Any side effects that occur will be carefully monitored to ensure they can be managed. The safety and well-being of participants remain the top priorities in these studies. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Unlike the standard of care for Bainbridge-Ropers Syndrome, which typically focuses on managing symptoms with supportive therapies, nL-ASXL3-001 is an antisense oligonucleotide therapy that targets the underlying genetic cause. Researchers are excited because this treatment directly interacts with the RNA of the ASXL3 gene, the root of the disorder, potentially correcting the genetic dysfunction at its source. This approach could mean a more effective and targeted treatment, offering hope for improved outcomes in patients who have limited options today.

What evidence suggests that this treatment might be an effective treatment for Bainbridge-Ropers Syndrome?

Research shows that treatments like nL-ASXL3-001, known as antisense oligonucleotide therapies, hold promise for treating genetic disorders by targeting specific gene mutations. This trial studies nL-ASXL3-001 as an open-label treatment aimed at addressing a mutation in the ASXL3 gene, linked to Bainbridge-Ropers Syndrome. The treatment seeks to fix or deactivate the faulty gene, potentially reducing symptoms or slowing disease progression. While data on nL-ASXL3-001's effectiveness for Bainbridge-Ropers Syndrome remains limited due to its novelty, similar treatments have succeeded in other genetic conditions. Early indications suggest that this personalized treatment could significantly advance care for individuals with this rare syndrome. ^{5 6 7 8 9}

Are You a Good Fit for This Trial?

This trial is specifically for a single participant with Bainbridge-Ropers Syndrome (BRPS) caused by a unique mutation in the ASXL3 gene. The eligibility criteria are not detailed here, but typically include health status and genetic factors.

Inclusion Criteria

Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s)

I can travel to the study location and follow the study's schedule.

I have a confirmed ASXL3 genetic mutation.

Exclusion Criteria

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

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive a personalized antisense oligonucleotide (ASO) treatment for Bainbridge-Ropers Syndrome

24 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

24 months

What Are the Treatments Tested in This Trial?

Interventions

• nL-ASXL3-001

Trial Overview The trial is testing an individualized antisense oligonucleotide (ASO) drug called nL-ASXL3-001, which has been tailored to treat BRPS in one person with a specific ASXL3 gene mutation.

How Is the Trial Designed?

Group I: Open Label Experimental Treatment 1 Intervention

Who Is Running the Clinical Trial?

n-Lorem Foundation

Lead Sponsor

Trials

5

Recruited

5+

University of North Carolina, Chapel Hill

Collaborator

Trials

1,588

Recruited

4,364,000+

Citations

1. withpower.com withpower.com/trial/phase-2-bainbridge-ropers-syndrome-4-2025-4e17f

Antisense Oligonucleotide Therapy for Bainbridge-Ropers ... This Phase 1 & 2 medical study run by n-Lorem Foundation needs participants to evaluate whether nL-ASXL3-001 will have tolerable side effects & efficacy for ...

2. synapse.patsnap.com synapse.patsnap.com/drug/c554acc7721d4629bcbf419ac71618e9

nL-ASXL3-001 - Drug Targets, Indications, Patents ... Antisense Oligonucleotide Treatment for Bainbridge-Ropers Syndrome Due to ASXL3 Gene Variant. 100 Clinical Results associated with nL-ASXL3-001.

3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC3098652/

Gene Therapeutic Approach Using Mutation-adapted U1 ... X-linked forms of RP often show an early disease onset and rapid progression. Up to 80% of all X-linked forms of RP cases are caused by mutations in the ...

4. arrefoundation.org arrefoundation.org/asxl-related-disorders/bainbridge-ropers-syndrome-asxl3/

Bainbridge-Ropers Syndrome (ASXL3) | ASXL-related ... Individuals with Bainbridge-Ropers Syndrome benefit significantly from different types of therapy to help build skills and prevent developmental regression.

5. researchgate.net researchgate.net/publication/312547855_Delineating_the_phenotypic_spectrum_of_Bainbridge-Ropers_syndrome_12_new_patients_with_de_novo_heterozygous_loss-of-function_mutations_in_ASXL3_and_review_of_published_literature

Delineating the phenotypic spectrum of Bainbridge-Ropers ... Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo , heterozygous, loss-of-function mutations in ASXL3 and review ...

6. orpha.net orpha.net/en/disease/detail/352577

Bainbridge-Ropers syndrome The disorder is due to loss of function mutations in ASXL3 gene (18q12.1). Diagnostic methods. Diagnosis is based on presentation of clinical features, and can ...

7. frontiersin.org frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2024.1456433/full

Four heterozygous de novo variants in ASXL3 identified ... Bainbridge-Ropers syndrome (BRPS) is a recently described neurodevelopmental genetic disorder associated with de novo truncating variants in additional sex ...

8. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/books/NBK563693/

ASXL3-Related Disorder - GeneReviews® - NCBI Bookshelf ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language ...

9. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62981

Familial Bainbridge‐Ropers syndrome: Report of ... It is characterized by neurodevelopmental delay, moderate to severe learning difficulties, behavioral problems, hypotonia and feeding problems.