This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with amyotrophic lateral sclerosis (ALS) due to a pathogenic variant in TARDBP.
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 amyotrophic lateral sclerosis (ALS) due to a pathogenic variant in TARDBP
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
1
Personalized antisense oligonucleotide
Columbia University, Irving Medical Center
New York, New York, United States
Houston Methodist
Houston, Texas, United States
Clinical Functioning
Change from baseline at 12-months post nL-TARD-001 administration in scores on Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R).
Time frame: Baseline to 12 months
Clinical Functioning
Change from baseline at 12-months post nL-TARD-001 administration in Slow Vital Capacity (SVC)
Time frame: Baseline to 12 months
Clinical Functioning
Change from baseline at 12-months post nL-TARD-001 administration in Edinburgh Cognitive and Behavioral ALS Screen (ECAS) score
Time frame: Baseline to 12 months
Clinical Functioning
Change from baseline at 12-months post nL-TARD-001 administration in ALS Cognitive Behavioral Screen (ALS-CBS) score
Time frame: Baseline to 12 months
Clinical Functioning
Change from baseline at 12-months post nL-TARD-001 administration in Amyotrophic Lateral Sclerosis Assessment Questionnaire 5 (ALSAQ-5)
Time frame: Baseline to 12 months
Disease Biomarkers
Change from baseline at 12-months post nL-TARD-001 administration in serum/plasma and CSF neurofilament light chain levels
Time frame: Baseline to 12 months
Safety and Tolerability
Incidence and severity of adverse events
Time frame: Baseline to 12 months
Safety and Tolerability
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Emergent abnormalities in physical exam (changes in appearance, skin, neck, ears, nose, throat, heart/lungs, abdomen, lymph nodes, and extremities compared to baseline)
Time frame: Baseline to 12 months
Safety and Tolerability
Emergent abnormalities in neurological exam (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline)
Time frame: Baseline to 12 months
Safety and Tolerability
Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis)
Time frame: Baseline to 12 months