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NCT Number: NCT06816498

Personalized Antisense Oligonucleotide Therapy for A Single Participant 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

Active, Not Recruiting

This study is active but is not currently recruiting participants.

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Key information

Conditions

Autosomal Dominant Leukodystrophy

Age range

51 year–51 year

Sex eligibility

Male

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Mayo Clinic

Rochester, Minnesota, 55905, United States

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

nL-LMNB1-001

Drug

Personalized antisense oligonucleotide

Primary outcomes

  1. 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

  2. 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

  3. 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

  4. 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).

  5. 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

Secondary outcomes

  1. Urodynamics

    Time frame: 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).

  2. Autonomic function

    Time frame: 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

  3. Autonomic function

    Time frame: 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 Quantitative Axon Reflex Sweat Test sweat output (uL)

  4. Autonomic function

    Time frame: 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 supine and standing catecholamines levels

  5. Autonomic function

    Time frame: 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 24-hour ambulatory blood pressure monitoring

  6. Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]

    Time frame: Baseline to 24 months

  7. Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and Tolerability]

    Time frame: Baseline to 24 months

  8. Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]

    Time frame: Baseline to 24 months

Sponsors and collaborators

Lead sponsor

n-Lorem Foundation

Other

Collaborators

  • Mayo Clinic

Registry information

Official study 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)

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Feb 10, 2025
Registry last updated
Jul 13, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.