Personalized Antisense Oligonucleotide Therapy for A Single Participant With LMNB1 Mutation Associated Autosomal Dominant Leukodystrophy (ADLD)

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)

Status

Active, not recruiting

Phases

Phase 1Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT06816498

Enrollment

Registered

2025-02-10

Start date

2025-03-17

Completion date

2027-03-01

Last updated

2026-07-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Autosomal Dominant Leukodystrophy

Brief 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

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

Interventions

DRUGnL-LMNB1-001

Personalized antisense oligonucleotide

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

MALE

Age

51 Years to 51 Years

Healthy volunteers

Inclusion criteria

* 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

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame	Description
Gait	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
Neurological functioning	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	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

Secondary

Measure	Time frame	Description
Urodynamics	Baseline to 24 months	Change from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration in urodynamic study (normal or abnormal bladder activity).
Autonomic function	Baseline to 24 months	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
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]	Baseline to 24 months	—
Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and Tolerability]	Baseline to 24 months	—
Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]	Baseline to 24 months	—

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Jul 14, 2026