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| Name | Class |
|---|---|
| The University of Texas Health Science Center, Houston | OTHER |
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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Open Label | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nL-GARS1-001 | Drug | Personalized antisense oligonucleotide |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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) | 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) | 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) | 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) | 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 | Baseline to 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| 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) | Baseline to 24 months |
| Functional Skills |
| Measure | Description | Time Frame |
|---|---|---|
| Pulmonary Function | Change in Forced Vital Capacity (FVC) from baseline to 12- and 24-months post nL-GARS1-001 administration | Baseline to 24 months |
| Pulmonary Function | Change in Forced Expiratory Volume in 1 second (FEV1) from baseline to 12- and 24-months post nL-GARS1-001 administration |
Inclusion Criteria:
Genetically confirmed GARS1 genetic variant
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UTHealth Houston | Houston | Texas | 77030 | United States |
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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)
| Baseline to 24 months |
| Safety and Tolerability | Incidence and severity of treatment-emergent adverse events (AEs) post nL-GARS1-001 administration | 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) | 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) | 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) | Baseline to 24 months |
| Baseline to 24 months |
| Nerve Function | Change in nerve function from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by speed and strength of electrical signals in the motor and sensory nerves | Baseline to 24 months |
| Cognition | Change in cognition from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by NIH Toolbox Cognition assessment | Baseline to 24 months |
| Communication | Change in communication skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the Communication Participation Item Bank (CPIB) | Baseline to 24 months |
| ID | Term |
|---|---|
| C537993 | Charcot-Marie-Tooth disease, Type 2D |
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