Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Mayo Clinic | OTHER |
Not provided
Not provided
Not provided
Not provided
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 CHCHD10
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 CHCHD10
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Open Label | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nL-CHCHD-001 | Drug | Personalized antisense oligonucleotide |
|
| Measure | Description | Time Frame |
|---|---|---|
| Clinical Functioning | Change from baseline at 12-months post nL-CHCHD-001 administration in scores on Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R). | Baseline to 12 Months |
| Motor Function | Change from baseline at 12-months post nL-CHCHD-001 administration in Forced Vital Capacity (FVC) | Baseline to 12 months |
| Motor Function | Change from baseline at 12-months post nL-CHCHD-001 administration in muscle strength as quantified by Handheld Dynamometry (HHD) | Baseline to 12 months |
| Clinical Functioning | Change from baseline at 12-months post nL-CHCHD-001 administration in Edinburgh Cognitive and Behavioral ALS Screen (ECAS) score | Baseline to 12 months |
| Clinical Functioning | Change from baseline at 12-months post nL-CHCHD-001 administration in scores on ALS Cognitive Behavioral Screen (ALS-CBS) | Baseline to 12 months |
| Clinical Functioning | Change from baseline at 12-months post nL-CHCHD-001 administration in scores on Amyotrophic Lateral Sclerosis Assessment Questionnaire 5 (ALSAQ-5) | Baseline to 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| Disease Biomarkers | Change from baseline at 12-months post nL-CHCHD-001 administration in serum and CSF neurofilament light chain levels | Baseline to 12 months |
| Safety and Tolerability | Incidence and severity of Adverse Events |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic | Rochester | Minnesota | 55905 | United States |
Not provided
| ID | Term |
|---|---|
| D000690 | Amyotrophic Lateral Sclerosis |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Baseline to 12 months |
| Safety and Tolerability | Emergent abnormalities in physical exam (changes in appearance, skin, neck, ears, nose, throat, heart/lungs, abdomen, lymph nodes, and extremities compared to baseline) | 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) | Baseline to 12 months |
| Safety and Tolerability | Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis) | Baseline to 12 months |
| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |