This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Charcot-Marie-Tooth disease type 2D (CMT2D) due to a pathogenic, de novo deletion mutation in GARS1
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 CMT2D due to a pathogenic, de novo deletion mutation in GARS1
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
1
Personalized antisense oligonucleotide
UTHealth Houston
Houston, Texas, United States
Motor Skills
Change in fine motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change in the Nine-Hole Peg Test (9-HPT)
Time frame: Baseline to 24 months
Motor Skills
Change in fine motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change in the Box and Block Test (BBT)
Time frame: Baseline to 24 months
Motor Skills
Change in gross motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change on Revised Upper Limb Module (RULM)
Time frame: Baseline to 24 months
Motor Skills
Change in gross motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change on Hammersmith Functional Motor Scale - Expanded (HFMSE)
Time frame: Baseline to 24 months
Motor Skills
Change in gross motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change on home videography assessment
Time frame: Baseline to 24 months
Quality of Life
Change in quality of life from baseline to 6-, 12-, 18- and 24-months post nL-GARS1-001 administration as measured by the Pediatric Quality of Life Inventory (PedsQL)
Time frame: Baseline to 24 months
Functional Skills
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Change in functional skills from baseline to 6-, 12-, 18- and 24-months post nL-GARS1-001 administration as measured by the Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT)
Time frame: Baseline to 24 months
Safety and Tolerability
Incidence and severity of treatment-emergent adverse events (AEs) post nL-GARS1-001 administration
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent Abnormalities in Physical Exam [Safety and Tolerability]
Changes post nL-GARS1-001 administration in physical examination (changes in appearance, skin, neck, ears, nose, throat, heart/lungs, abdomen, lymph nodes, and extremities compared to baseline)
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability]
Changes post nL-GARS1-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline as assessed by treating physician)
Time frame: Baseline to 24 months
Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]
Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis)
Time frame: Baseline to 24 months