Clinical trial NCT06816498: Personalized Antisense Oligonucleotide Therapy for A Single Participant With LMNB1 Mutation Associated Autosomal Dominant Leukodystrophy (ADLD)
Official 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)
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: PHASE1
PHASE2
Conditions: Autosomal Dominant Leukodystrophy
Lead sponsor: n-Lorem Foundation
Sponsor class: OTHER
Collaborators: name: Mayo Clinic
First posted: 2025-02-10
Enrollment: 1
Sex: MALE
Minimum age (years): 51
Maximum age (years): 51
Standard ages: ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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

Eligibility criteria: 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

Primary outcomes:
measure: Gait
timeFrame: Baseline to 24 months
measure: Gait
timeFrame: Baseline to 24 months
measure: Gait
timeFrame: Baseline to 24 months
measure: Neurological functioning
timeFrame: Baseline to 24 months
measure: Brain atrophy
timeFrame: Baseline to 24 months
Secondary outcomes:
measure: Urodynamics
timeFrame: Baseline to 24 months
measure: Autonomic function
timeFrame: Baseline to 24 months
measure: Autonomic function
timeFrame: Baseline to 24 months
measure: Autonomic function
timeFrame: Baseline to 24 months
measure: Autonomic function
timeFrame: Baseline to 24 months
measure: Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]
timeFrame: Baseline to 24 months
measure: Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and Tolerability]
timeFrame: Baseline to 24 months
measure: Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]
timeFrame: Baseline to 24 months
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
Study officials:
References: