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
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
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
1
Personalized antisense oligonucleotide
Mayo Clinic
Rochester, Minnesota, United States
Gait
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by gait motion analysis
Time frame: Baseline to 24 months
Gait
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by 6-minute walk test
Time frame: Baseline to 24 months
Gait
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by 25-feet walk test
Time frame: Baseline to 24 months
Neurological functioning
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).
Time frame: Baseline to 24 months
Brain atrophy
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
Time frame: Baseline to 24 months
Urodynamics
Change from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration in urodynamic study (normal or abnormal bladder activity).
Time frame: Baseline to 24 months
Autonomic function
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
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Time frame: Baseline to 24 months
Autonomic function
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)
Time frame: Baseline to 24 months
Autonomic function
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
Time frame: Baseline to 24 months
Autonomic function
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
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and Tolerability]
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]
Time frame: Baseline to 24 months